retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.


Arcuate scotoma

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Posterior polar cataract

A polar cataract that affects the posterior pole of the lens.


Pseudophakia

The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).


Abnormality of corneal thickness

An abnormal anteroposterior thickness of the cornea.


Punctate opacification of the cornea

Punctate opacification (reduced transparency) of the corneal stroma.


Abnormal anterior eye segment morphology

An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).


Limbal edema

Swelling of the margin of the cornea overlapped by the sclera.


Perifoveal hypoautofluorescence

Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.


Abnormal distribution of retinal arterioles and venules


cone dystrophy

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An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.


Vitreomacular adhesion

Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.


Retinal arterial macroaneurysms

Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.


Abnormal corneal endothelium morphology

Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.


Progressive external ophthalmoplegia

Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.


Increased vertical cup-to-disc ratio - 0.8

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).


Foveal inner retinal layer loss on macular OCT


Dysmetric horizontal saccades

Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.


Posterior blepharitis

A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.


Hypotelorism

Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).


Focal subretinal deposits

Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.


Lateral rectus muscle restriction

Mechanical limitation of the range of movement of the lateral rectus muscle.


Inferior chorioretinal coloboma

Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.


Scleral thickening

Increased dimension of the sclera in the anterior-posterior axis.


Adult-onset night blindness

Inability to see well at night or in poor light with onset in adulthood.


Abnormality of foveal pigmentation

An anomaly of the pigmentation in the fovea centralis.


Ectopic cilia of eyelid

An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.


Keratoglobus

Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.


Incyclotropia

A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.


Macular flecks

Pale often indistinct lesions of the macula.


Alternating hyperphoria

A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.


Abnormal visual accommodation

An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.


Deep episcleral hyperemia

Prominence of blood vessels of the deep episcleral tissues.


Iris pigment dispersion

Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.


Against the rule astigmatism

Astigmatism with more plus power on the horizontal meridian.


Infantile constant exotropia

Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.


Increased axial length of the globe

Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.


Inferior oblique muscle overaction

A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.


Aplasia/Hypoplasia of the lens

Absence or underdevelopment of the lens.


Impaired pursuit initiation and maintenance


Hypermetric saccades

A saccade that overshoots the target with the dynamic saccade.


intermediate uveitis

Inflammation of the pars plana.


Abnormal eyelid physiology

Any functional abnormality of the eyelid.


Lens coloboma

A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.


Macular thickening

Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.


hypertensive retinopathy

Retinopathy due to hypertension.


Iris cyst

An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.


Gaze-evoked horizontal nystagmus

Horizontal nystagmus made apparent by looking to the right or to the left.


glaucoma 3A

An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.


primary angle-closure glaucoma

An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.


Cyclic exotropia

A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.


Vitreous strands

Fiber- or rope-like opacities located within the vitreous humor.


retinal telangiectasia

Dilatation of small blood vessels of the retina.


Distance exotropia

A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.


corneal dystrophy

The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.


Inflammatory abnormality of the eye

Inflammation of the eye, parts of the eye or the periorbital region.


cone-rod dystrophy 21

Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.


Dark choroid

A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).


Retinopathy of prematurity zone III

Retinopathy which is a residual crescent of retina anterior to zone II.


Foveal hemorrhage

Bleeding occurring within the fovea.


Iris nevus

A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.


Pericentral scotoma

A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.


Corneal pterygium

Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.


bradyopsia

Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.


Hypoautofluorescent retinal lesion

Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


Abnormality of pattern reversal visual evoked potentials


Foveal subretinal hyporeflective spaces on macular OCT


Lacrimal duct stenosis

Narrowing of a tear duct (lacrimal duct).


Abnormal eyelash morphology

An abnormality of the eyelashes.


Increased OCT-measured macular thickness


Tortuosity of conjunctival vessels

The presence of an increased number of twists and turns of the conjunctival blood vessels.


Fractured orbit of skull

A partial or complete breakage of the orbit of skull.


Medial rectus muscle underaction

Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

An abnormal reduction in the amplitude of the a-wave.


Retinitis pigmentosa inversa

Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).


Submacular hemorrhage

Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


anterior segment dysgenesis

A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).


Superior lens subluxation

Partial dislocation of the lens in a superior direction.


Retinal nerve fiber edema

Swelling (edema) of the retinal nerve fibers.


Glial remnants posterior to lens

This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.


Small yellow foveal lesion with surrounding gray zone

A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.


Abnormality of globe size

An abnormality in the size of the ocular globe (eyeball).


aniridia

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).


Anterior chamber cells grade 4+

Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Mild myopia

A mild form of myopia with up to -3.00 diopters.


Aplasia/Hypoplasia affecting the uvea

Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.


early-onset non-syndromic cataract

Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.


Conjunctival telangiectasia

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.


Square-wave jerks

Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.


Granular macular appearance

Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.


Saccadic oscillation

An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.


Lacrimation abnormality

Abnormality of tear production.


Dot-and-blot retinal hemorrhage

Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.


Malar prominence

Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.


cataract 16 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.


Abnormal horizontal rectus muscle physiology

A functional anomaly of the medial rectus muscle or lateral rectus muscle.


Membranous cataract

A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.


Short eyelashes

Decreased length of the eyelashes (subjective).


Giant conjunctival papillae

Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.


Excyclotropia

A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.


Polycoria

Multiple pupils.


Inferior oblique muscle restriction

Mechanical limitation of the range of movement of the inferior oblique muscle.


Horizontal nystagmus

Nystagmus consisting of horizontal to-and-fro eye movements.


Basic constant exotropia

Constant exotropia for near and distance, presenting after 6 months of age.


Ophthalmoparesis

Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.


Hypoplasia of the ciliary body

Underdevelopment of the ciliary body.


Abnormal fundus morphology

Any structural abnormality of the fundus of the eye.


Limited vertical extraocular movement

Limited mobility of the eye to move up and down (vertically) within its socket.


Hypermetric horizontal saccades

Overshoot of horizontal (sideways) saccadic eye movements.


Congenital stationary night blindness with abnormal fundus


Abnormal involuntary eye movements

Anomalous movements of the eyes that occur without the subject wanting them to happen.


Bussaca nodules

A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.


fundus albipunctatus

Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


Impaired horizontal smooth pursuit

An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.


Eye movement-induced pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.


Retinal arteriolar tortuosity

The presence of an increased number of twists and turns of the retinal arterioles.


retinal microaneurysm

An aneurysm that is located within the system of small blood vessels, including capillaries, venules, and arterioles, that perfuse the body's tissues.


Compensatory chin elevation

A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.


Severe constriction of peripheral visual field

Peripheral visual field constriction with 10-19 degrees central field preserved.


Optic pit

A developmental anomaloy characterized by congenital excavation of the optic nerve head.


Iris transillumination defect

Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.


Retinopathy of prematurity zone I

Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.


Alternating hypotropia

A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.


Central heterochromia

The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.


Abnormal pattern electroretinogram

An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.


Long eyelashes

Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).


Retinal crystals

Crystalline deposits in the retina.


Juvenile cataract

A type of cataract that is not apparent at birth but that arises in childhood or adolescence.


Abnormality of fundus pigmentation

Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.


Superior rectus muscle weakness

Decreased strength of the superior rectus muscle.


Decreased corneal reflex

An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.


accommodative esotropia

A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.


Anterior chamber inflammatory cells

The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.


peripheral retinal degeneration

Degeneration of the peripheral retina.


Lisch nodules

The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..


Triangular nuclear cataract

A nuclear cataract with a triangular form.


Aplastic zygomatic arch

Developmental defect characterized by the absence of the zygomatic arch.


Focal sub-RPE deposits

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.


Abnormal amplitude of pattern electroretinogram


retinal cancer

A malignant neoplasm involving the retina.


Bilateral microphthalmos

A developmental anomaly characterized by abnormal smallness of both eyes.


Ultra-low vision with retained motion projection

Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).


ocular albinism

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.


Abnormal timing of light-adapted flicker electroretinogram


Spontaneous conjunctival filtering bleb

Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.


Abnormal retinal morphology on macular OCT


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Seesaw nystagmus

Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.


red-green color blindness

Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.


Subretinal pigment epithelium hemorrhage

An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.


Perifoveal ring of hyperautofluorescence


Posterior lenticonus

A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.


Abnormal uvea morphology

An abnormality of the uvea, the vascular layer of the eyeball.


Cerebral visual impairment

A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.


Axenfeld anomaly

Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.


Defect of palpebral conjunctiva

An abnormality of the palpebral conjunctiva.


Abnormal paracentral response of multifocal electroretinogram


Abnormal corneal limbus morphology

An anomaly of the margin of the cornea overlapped by the sclera.


Poor visual behavior for age

Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.


Foveal atrophy

Partial or complete loss of foveal tissue that was once present.


megalocornea

An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.


Abnormal iris pigmentation

Abnormal pigmentation of the iris.


Foveal depigmentation

Loss of pigment in the fovea centralis.


Optic nerve dysplasia

The presence of developmental dysplasia of the optic nerve.


Abnormal timing of pattern reversal visual evoked potentials


Abnormal ocular adnexa physiology

A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Temporal optic disc pallor

A pale yellow discoloration of the temporal (lateral) portion of the optic disc.


Bitot spots of the conjunctiva

Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.


retinal arterial tortuosity

The presence of an increased number of twists and turns of the retinal artery.


Increased cup-to-disc ratio

An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.


Long eyebrows

Increased length of the hairs of the eyebrows.


Abnormal timing of dark-adapted bright flash electroretinogram


Downbeat nystagmus

Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.


Partially accomodative esotropia

A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.


Foveal hypopigmentation

Decreased amount of pigmentation in the fovea centralis.


Glial remnants anterior to the optic disc

Persistance of a posterior remnant of the hyaloid artery located at the optic disc.


Drusen

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.


Long upper eyelashes

Increased length of the upper eyelashes.


Lacrimal pump failure

A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.


Ultra-low vision

Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).


Peripheral opacification of the cornea

Reduced transparency of the peripheral region of the cornea.


hyalitis

Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.


Opacification of the corneal epithelium

Lack of transparency of the corneal epithelium.


Peripapillary exudate

A retinal exudate in the area surrounding the optic nerve head.


Posterior capsular cataract

A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.


Retinal pigment epithelial mottling

Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.


Abnormal Pelli Robson contrast sensitivity chart test

An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.


Seborrhoeic blepharitis

Inflammation of the eyelid due to overactivity of the sebaceous gland.


cornea plana

Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.


Superior oblique muscle weakness

Decreased strength of the superior oblique muscle.


Stellate iris

A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.


Peripheral vitreoretinal degeneration

A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.


Abnormality of the vasculature of the eye


Lipemia retinalis

A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.


Chorioretinal dysplasia

Abnormal development of the choroid and retina.


Iridescent posterior subcapsular cataract

A type of posterior subcapsular cataract characterized by an iridescent color.


Abnormal corneal epithelium morphology

Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.


Medial rectus muscle overaction

Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Superior rectus muscle overaction

Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Brushfield spots

The presence of whitish spots in a ring-like arrangement at the periphery of the iris.


Lipomas of eyelids

Fatty tumors on the eyelids.


Heinz body anemia

Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.


Small Intestinal High Grade B-Cell Lymphoma, Not Otherwise Specified

A small intestinal high grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma which lacks MYC, BCL2, and BCL6 rearrangements.


Mietens syndrome

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.


muscularis mucosae of rectum

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A muscularis mucosa that is part of a rectum.


muscle tissue of terminal part of digestive tract

Any muscle tissue of the distalmost portion of the digestive tract.


rectum smooth muscle tissue

Any portion of smooth muscle tissue that is part of the rectum.


multicentric osteolysis, nodulosis, and arthropathy

A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.


A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.


Winchester syndrome

An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.


Stage IIIA Retroperitoneal Sarcoma AJCC v8

Stage IIIA includes: T2, N0, M0, G2, G3. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


retroperitoneal sarcoma

A sarcoma involving a retroperitoneal space.


Adrenal Gland Leiomyosarcoma

A rare leiomyosarcoma that arises from the adrenal gland.


Retroperitoneal Malignant Peripheral Nerve Sheath Tumor

Malignant peripheral nerve sheath tumor that arises in the retroperitoneum.


Stage IIIB Retroperitoneal Sarcoma AJCC v8

Stage IIIB includes: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Stage I Retroperitoneal Sarcoma AJCC v8

Stage I includes: IA: (T1, N0, M0, G1, GX); IB: (T2, T3, T4, N0, M0, G1, GX). T1: Tumor measuring 5 cm or less in greatest dimension. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


Stage IA Retroperitoneal Sarcoma AJCC v8

Stage IA includes: T1, N0, M0, G1, GX. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


Adrenal Gland Angiosarcoma

A rare malignant soft tissue neoplasm arising from the vascular endothelium of the adrenal gland.


Stage III Retroperitoneal Sarcoma AJCC v8

Stage III includes: IIIA: (T2, N0, M0, G2, G3); IIIB: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Retroperitoneal Rhabdomyosarcoma

A rhabdomyosarcoma arising from the retroperitoneum.


Stage II Retroperitoneal Sarcoma AJCC v8

Stage II includes: T1, N0, M0, G2, G3. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Retroperitoneal Undifferentiated Pleomorphic Sarcoma

A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum.


Retroperitoneal Sarcoma by AJCC v8 Stage

A term that refers to the staging of retroperitoneal soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system. This staging system applies to common sarcomas in the retroperitoneum. (from AJCC 8th Ed.)


retroperitoneal leiomyosarcoma

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


Stage IV Retroperitoneal Sarcoma AJCC v8

Stage IV includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 8th ed.)


Adrenal Gland Sarcoma

A rare sarcoma that arises from the adrenal gland.


Stage IB Retroperitoneal Sarcoma AJCC v8

Stage IB includes: T2, T3, T4, N0, M0, G1, GX. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


Abnormal T cell proliferation

Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.


Defective T cell proliferation

A reduced ability of a T cell population to expand by cell division following T cell activation.


Reduced antigen-specific T cell proliferation

Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.


Diamond-Blackfan anemia 12

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.


Bifid first metacarpal

Partial duplication of the first metacarpal bone.


Partial duplication of the proximal phalanges of the hand

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


Partial duplication of the proximal phalanx of the 3rd finger

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


Partial duplication of the proximal phalanx of the 2nd finger

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


Partial duplication of the proximal phalanx of the 5th finger

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


Partial duplication of the proximal phalanx of the 4th finger

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


negative regulation of metanephric nephron tubule epithelial cell differentiation

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Any process that decreases the frequency, rate or extent of metanephric nephron tubule epithelial cell differentiation.


regulation of mesonephric nephron tubule epithelial cell differentiation

Any process that modulates the frequency, rate or extent of mesonephric nephron tubule epithelial cell differentiation.


negative regulation of mesonephric nephron tubule epithelial cell differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of mesonephric nephron tubule epithelial cell differentiation.


Stage IIIA Gestational Trophoblastic Tumor AJCC v7

Stage IIIA includes: Any T, M1a, Risk factors: low risk.  M1a: Lung metastasis.  (AJCC 7th ed.)


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Catalysis of the transfer of an N-acetylgalactosaminyl residue from UDP-N-acetyl-galactosamine to an acceptor molecule, forming an alpha-1,4 linkage.


Decreased circulating fetuin A concentration

A reduction below normal of fetuin A in the blood circulation.


Anti-nucleolus-organizing region antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.


Abnormal sperm head morphology

A structural abnormality of the sperm head.


Renal arteriolar lumen organized thrombi

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


Upper limb phocomelia

Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).


Abnormality of the menstrual cycle

An abnormality of the ovulation cycle.


Class III obesity

Obesity with a body mass index of 40 kg per square meter or higher.


Abnormality of the distal femoral epiphysis

Any abnormality of the distal epiphysis of the femur.


Internal hemorrhage

The presence of hemorrhage within the body.


Ethmocephaly

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.


Dry nipple

Abnormally dry skin in the area of the nipple of the breast.


Agenesis of incisor

Agenesis of incisor.


Excessively quiet voice

Speech which is abnormally quiet or inappropriate whispering that is not due to a structural or muscular abnormality.


Abnormal cortical peritubular capillary lumen morphology

Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.


Abnormal circulating tyrosine concentration

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


Subtentorial periventricular white matter hyperdensity

Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).


Absence of secondary sex characteristics

No secondary sexual characteristics are present at puberty.


Symphalangism affecting the middle phalanges of the toes


Circumungual hyperkeratosis

A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.


Double first metacarpals

Duplication of the metacarpal I bones.


Forward facing earlobe

Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.


Spider hemangioma

A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.


Decreased sweating due to autonomic dysfunction


Supraclavicular lymphadenopathy

Enlarged lymph node located just above the clavicle (collarbone).


Bracket epiphysis of the distal phalanx of the 5th toe


Increased insulin like growth factor binding protein acid labile subunit concentration

An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.


Biceps aplasia

Absence of the biceps muscle.


Superficial dermal perivascular inflammatory infiltrate

Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.


Cervical ectopia cordis

A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.


Hypoplasia of the uterus

Underdevelopment of the uterus.


Proximal/middle symphalangism of 4th toe

Bony fusion of the middle and proximal phalanges of the 4th toe.


factor VII deficiency

A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.


Slow-growing nails

Nails whose growth is slower than normal.


Chronic decreased circulating IgG4

A lasting decrease of immunoglobulin G4 (IgG4) in the blood.


Irregular tarsal ossification

Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Enamel agenesis

Complete or almost complete absence of enamel.


Abnormality of frontal sinus

An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.


Elevated imprint of the transverse sinuses


Abnormal vitamin B12 level

A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.


Impaired task monitoring

Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.


histrionic personality disorder

A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.


Fractured metaphysis of femur

A partial or complete breakage of the metaphysis of femur.


Joint contracture of the 5th finger

Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.


Impaired Ig class switch recombination

An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.


Large cafe-au-lait macules with irregular margins

Large hypermelanotic macules with jagged borders.


Decreased level of plasminogen

A decreased level of Plasminogen


Fibular aplasia

Absence of the fibula.


Elevated circulating cartilage oligomeric matrix protein concentration

An increased blood concentration of cartilage oligomeric matrix protein (COMP).


Small cerebellar cortex

Reduced size of the cerebellar cortex.


Hemisacrum

A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.


Multifocal breast carcinoma

Breast carcinoma that is bilateral or otherwise multifocal.


Renal arteriole lymphocyte endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.


Aplasia/Hypoplasia of the 2nd finger

A small/hypoplastic or absent/aplastic 2nd finger.


Fractured calcaneus

A partial or complete breakage of the calcaneus.


Anti-GM3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.


Aplasia/Hypoplasia of the middle phalanx of the 3rd toe


Abnormal response to short acting pulmonary vasodilator

Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.


Limb-girdle muscle atrophy

Muscular atrophy affecting the muscles of the limb girdle.


EEG with irregular generalized spike and wave complexes

EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.


Nihilistic delusion

A false belief associated with the nonexistence of the "self," specific body parts, or the world.


Papillary renal cell carcinoma type 2

A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.


Focal impaired awareness sexual automatism seizure

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


Folate deficiency in CSF

A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.


Glomerular basement membrane electron dense deposits

Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.


Upper limb peromelia

Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.


Absent epiphyses of the distal phalanges of the hand


Patchy sclerosis of the distal phalanx of the 3rd finger

Uneven (irregular) increase in bone density of the distal phalanx of the third finger.


Abnormality of the outer ear

An abnormality of the external ear.


Impaired urinary acidification

The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.


Unilateral vocal cord paresis

Decreased strength of the vocal fold on one side.


Abnormal limb bone morphology

Any abnormality of bones of the arms or legs.


Triangular shaped phalanges of the 3rd toe


Stippling of the epiphyses of the 4th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.


Increased anti-venom IgE antibody level

Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.


Enlarged sperm head vacuole

Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.


Conical mandibular incisor

An abnormal conical morphology of the primary or permanent mandibular incisors.


Orthodeoxia

Low level of blood oxygen induced by changing from a recumbent to an upright position.


Overvalued idea

A solitary belief that can be considered justified in the context of a person's life history and personality, but which goes on to determine an individual's actions to a morbid degree. The disturbance in functioning and the subjective suffering caused to the patient or others give this type of idea the qualifier of being overvalued.


Abnormality of body height

Deviation from the norm of height with respect to that which is expected according to age and gender norms.


Intrapulmonary sequestration

A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.


Carnitinuria

An elevated level of carnitine in the urine.


Increased anti-alpha-gal IgE antibody level

Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.


Horseshoe kidney

A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.


Aplasia/Hypoplasia of the tarsal bones

Absence or underdevelopment of the tarsal bones.


X-linked calvarial hyperostosis

Excessive growth of the calvaria.


Erythematous oral mucosa

An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.


arthrogryposis

A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.


Abnormal liver sonography

An abnormal appearance of the liver or any of its components on sonography (ultrasound).


Non-obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Abnormality of immune system physiology

A functional abnormality of the immune system.


Cortical thickening of long bone diaphyses

Abnormal thickening of the cortex of the diaphyseal region of long bones.


Agenesis of mandibular premolar

Agenesis of mandibular premolar.


Congenital finger flexion contractures

Multiple bent (flexed) finger joints that cannot be straightened actively or passively.


Small earlobe

Reduced volume of the earlobe.


Periodic limb movements

Repetitive limb movements during sleep can affect the quality of your sleep.


Widely patent fontanelles and sutures

An abnormally increased width of the cranial fontanelles and sutures.


Delayed ossification of vertebral epiphysis

A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.


Decreased plasma total carnitine

A decreased concentration of total carnitine in the blood.


Increased circulating troponin T concentration

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


Anti-PM-Scl antibody positivity

Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.


Fractured patella

A partial or complete breakage of the patella.


Abnormal ventriculoarterial connection

An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.


Duplication of the distal phalanx of the 4th finger

Partial or complete duplication of the distal phalanx of ring finger.


Ivory epiphyses of the 4th toe

Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Premature epimetaphyseal fusion in ulna

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


pleomorphic xanthoastrocytoma

A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.


Abnormal pinna morphology

An abnormality of the pinna, which is also referred to as the auricle or external ear.


Olfactory hallucination

Perception of smell without olfactory stimulus.


Abnormal urinary electrolyte concentration

An abnormality in the concentration of electrolytes in the urine.


Increased nuchal translucency

Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).


Long nasal bridge

Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Growth arrest lines

Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.


Abnormal iliac artery morphology

Any structural anomaly of the iliac artery.


Hypoplasia of the upper arm musculature

Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.


Nasogastric tube feeding in infancy

Feeding problem necessitating nasogastric tube feeding.


Renal tubular epithelial cell casts

A type of cellular urinary cast composed of renal tubular epithelial cells.


post-traumatic stress disorder

An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.


Abnormal enteric nervous system morphology

A structural anomaly of nerves of the enteric nervous system.


Increased anti-parasite IgE antibody level

Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.


pilonidal sinus

A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


Fixed splitting of the second heart sound

Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.


Curved distal phalanx of the 2nd finger

Curved appearance of the distal phalanx of the 2nd finger.


Abnormal glomerular parietal epithelial cell morphology

Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.


Decreased size of nasopharyngeal adenoids

An abnormal decrease in the size of nasopharyngeal adenoids.


Duplication of the distal phalanx of the thumb

Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.


Abnormal tricuspid valve leaflet morphology

Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.


Abnormal fetal skin morphology

Any structural anomaly of the skin of the fetus or newborn. 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.


Bracket epiphyses of the phalanges of the hand

Bracket epiphysis refers to an abnormality 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.


Thick vermilion border

Increased width of the skin of vermilion border region of upper lip.


Neuroinflammation

Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.


Illusions due to affect

Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state.


Simple ear

The pinna has fewer folds and grooves than usual.


Elevated circulating C4 acylcarnitine concentration

Concentration of C4 acylcarnitines in the blood circulation above the upper limit of normal. C4 acylcarnitines have a four-carbon acyl chain.


Abnormality of hair pigmentation

An abnormality of hair pigmentation (color).


Chronic hemolytic anemia

An chronic form of hemolytic anemia.


Delayed eruption of teeth

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.


Chronic monilial nail infection

Chronic infection of the nails by Candida species.


Carotid artery dilatation

A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.


Arcuate artery lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of arcuate 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.


Underdeveloped tragus

Decreased posterolateral protrusion of the tragus.


Abnormal CSF lysine concentration

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


Reduced brain choline level by MRS

An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Bracket epiphysis of the proximal phalanx of the 5th finger

An abnormality of the proximal phalanx of the fifth 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.


J-shaped sella turcica

A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.


Reticular hyperpigmentation

Increased pigmentation of the skin with a netlike (reticular) pattern.


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Anti-multiple nuclear dots antibody positivity

A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.


Abnormality of the umbilical cord

An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.


Hypermanganesemia

An elevation above the normal concentration of manganese in the blood.


Clavicular sclerosis

An increase in bone density within the clavicle.


polymicrogyria

A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


Punctate periventricular T2 hyperintense foci

Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.


Erythema migrans

An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).


Partial absence of specific antibody response to tetanus vaccine

A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


Abnormal cerebellum morphology

Any structural abnormality of the cerebellum.


2-hydroxyadipic aciduria

An increase in the level of 2-hydroxyadipic acid in the urine.


Abnormal celiac artery morphology

An anomaly of the celiac artery.


Pseudoepiphysis of the proximal phalanx of the hallux

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


Capillary malformation of the lip

A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.


Reversed end-diastolic umbilical artery flow

An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).


Palmar edema

An abnormal accumulation of fluid beneath the skin on the palm of the hand.


Stippled calcification of humeral metaphysis


Triangular shaped proximal phalanx of the 3rd finger

Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Interlobular vein intima/media necrosis

Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.


Elevated myocardial native T1

Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.


Osteolytic defects of the phalanges of the 4th toe


Endogenous lipoid pneumonia

A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.


Type II pneumocyte hypertrophy

Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.


Lymph node necrosis

Areas of necrotic tissue within a lymph node.


incisors, lower central, absence of

Agenesis of lower secondary incisor or lower primary incisor.


Pleomorphic cholangitis

Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.


Cystic artery pseudoaneurysm

Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.


embryonal rhabdomyosarcoma

A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.


Reduced epidermal collagen IV protein expression


teeth present at birth

A tooth present at birth or erupting within the first month of life.


Decreased platelet thromboxane A2 receptor

Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).


Abnormality of the larynx

An abnormality of the larynx.


Abnormal anatomic location of the heart

Developmental defect characterized by an anomalous anatomic location of the heart.


Abnormal mast cell morphology

Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.


Decreased hemoglobin concentration

An abnormal reduction below normal hemoglobin concentration in the circulation.


orotic aciduria

An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.


Abnormal platelet alpha granule secretion

Abnormal release of alpha granule contents from platelets.


carotid stenosis

A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.


Abnormal circulating haptoglobin concentration

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


Anti-titin antibody positivity

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


Symphalangism of the thumb

Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.


congenital microgastria

Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.


Bicuspid pulmonary valve

The presence of a bicuspid pulmonary valve.


Exercise-induced muscle fatigue

An abnormally increased tendency towards muscle fatigue induced by physical exercise.


Joint contracture of the hand

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


spermatic cord torsion

An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.


Diffuse swelling of cerebral white matter


Aplasia/Hypoplasia involving the musculature of the extremities


Shortening of all phalanges of fingers

Abnormal reduction in length affecting all phalanges.


Sydney crease

Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.


Profound hearing impairment

A profound (essentially complete) form of hearing impairment.


West syndrome

West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.


Decreased specific anti-polysaccharide antibody level

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.


Focal aware emotional seizure

A focal emotional seizure during which awareness is retained throughout the seizure.


Lateral femoral bowing

A lateral bending or abnormal curvature of the femur.


Pulmonary interstitial high-resolution computed tomography abnormality

High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.


Symphalangism of the 4th finger

Fusion of two or more bones of the 4th finger.


Cellular non-specific interstitial pneumonia

A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.


Shortening of all proximal phalanges of the fingers

Congenital hypoplasia of proximal phalanx of finger or all fingers.


Mucinous gastric carcinoma

A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.


Addictive stimulant use

Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.


Eruptive vellus hair cyst

A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.


Bullet-shaped proximal phalanx of the 5th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.


Moderate generalized osteoporosis

Moderate osteoporosis.


Organic aciduria

Excretion of non-amino organic acids in urine.


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


Limited mobility of proximal interphalangeal joint


Abnormal urine phosphate concentration

An abnormal phosphate concentration in the urine.


Hypoplastic philtrum

Underdevelopment of the philtrum.


Increased level of ribitol in urine

An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.


Renal cortical interstitial inflammation

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


Abnormality of the vasculature

An abnormality of the vasculature.


embryonal neoplasm

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003


Hyperplasia of the maxilla

Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.


Pareidolia

Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects.


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

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


Central cyanosis

Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.


Sclerosis of the carpal bones

An elevation in bone density in one or more carpal bones of the hand.


renal dysplasia, bilateral

Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.


Conjugated hyperbilirubinemia

Abnormally high level of conjugated bilirubin in the blood.


Partial absence of thumb

The absence of a phalangeal segment of a thumb.


Global brain atrophy

Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.


Increased circulating myelocyte count

An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.


Decreased circulating thyrotropin releasing hormone concentration

Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation.


Bullet-shaped proximal phalanx of the thumb

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 thumb is affected.


Subjective eidetic images

A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others.


Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.


Dumbbell-shaped femur

The femur is shortened and displays flaring (widening) of the metaphyses.


Bilobate gallbladder

The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.


Nail bed hemorrhage

Small areas of bleeding (hemorrhage) under the fingernail or toenail.


Episodic paroxysmal anxiety

Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.


Patchy sclerosis of the proximal phalanx of the thumb

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


Ambiguous atrioventricular connection

With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).


dyscalculia

A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.


Anti-HLA-B IgG3 antibody positivity

The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Diaphyseal sclerosis of the upper limbs

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


Hyperbeta-alaninemia

Increased concentration of beta-alanine in the blood.


Stiff hip

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


Abnormal small intestinal mucosa morphology

A structural anomaly of the mucous lining of the small intestine.


Aplasia cutis congenita over posterior parietal area


Maternal seizure

A seizure during pregnancy.


Aplasia/Hypoplasia of the palmar creases

Absence or underdevelopment of the palmar creases.


Decreased urinary uromodulin level

The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.


Abnormal intestinal smooth muscle morphology

A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.


iniencephaly

Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.


Congenital hypoparathyroidism

Deficiency of parathyroid hormone with congenital onset.


Wide epiphyseal plates of the upper limbs


Biconcave vertebral bodies

Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.


Symphalangism affecting the proximal phalanges of the hand


Elevated circulating desmosterol concentration

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


Left axis deviation

A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.


Complete duplication of the phalanges of the 2nd finger

A complete duplication affecting one or more of the phalanges of the 2nd 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, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Aplasia/Hypoplasia of the middle phalanges of the hand


Bilateral generalized polymicrogyria

Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.


Pulmonary artery atresia

A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


Lip fissure

A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.


Reduced intraepidermal small nerve fiber density

Reduced number of small nerve fibers in the skin.


Axial muscle stiffness

Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.


Decreased circulating chylomicron concentration

Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Absent thumbnail

Absence of thumb nail.


Short proximal phalanx of toe

Developmental hypoplasia (shortening) of proximal phalanx of toe.


Ectopic calcification

Deposition of calcium salts in a tissue or location in which calcification does not normally occur.


Cone-shaped epiphysis of the middle phalanx of the 5th finger

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


Decreased circulating hydroxyproline concentration

A decreased amount of hydroxyproline in the blood.


Large fontanelles

In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.


Abnormality of somatic nerve plexus

Any abnormality of the somatic nerve plexus.


Abnormal circulating cholesterol concentration

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


Aplasia/Hypoplasia of the distal phalanx of the 2nd finger


Amyloidosis of peripheral nerves

The presence of amyloid deposition in the nerves of the peripheral nervous system.


Decreased circulating dehydroepiandrosterone concentration


Abnormal conus terminalis morphology

Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).


Abnormal adrenal morphology

Any structural anomaly of the adrenal glands.


Duplicated tragus

A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.


Facial synkinesis

Unintentional movement in one area of the face produced during intentional movement of another area of the face.


Cholesterol emboli within interlobular vein lumen

Needle-like or slit-like clefts within the interior space of interlobular veins. 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.


Cystic nephroma

A benign cystic neoplasm of the kidney.


Flat occiput

Reduced convexity of the occiput (posterior part of skull).


Absent epiphysis of the middle phalanx of the 3rd finger

Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.


Curved phalanges of the 4th finger

Curved appearance of the phalanges of the 4th (ring) finger.


Renal atrophy

Atrophy of the kidney.


Generalized abnormality of skin

An abnormality of the skin that is not localized to any one particular region.


Impaired vibration sensation at ankles

A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.


Panacinar emphysema

Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.


Increased urinary polyhexose

An abnormal increase in the concentration of polyhexose in the urine.


EEG with photoparoxysmal response grade I

Occurrence of epileptiform discharges in occipital regions during photic stimulation.


Abnormal RV/TLC ratio

Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.


Nasal chondritis

Inflammation of the cartilage of the nose.


Trident pelvis

Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.


Abnormality of neutrophil physiology

A functional abnormality of neutrophils.


Thalamic edema

Swelling within the thalamus due to the accumulation of fluid.


Restrictive behavior

Behavior characterized by an abnormal limitation to a few interests and activities.


Hypertryptophanemia

An increased amount of tryptophan in the blood.


Aplasia/Hypoplasia of the triceps

Absence or underdevelopment of the triceps muscle.


Delayed early-childhood social milestone development

A failure to meet one or more age-related milestones of social behavior.


Abnormal gastrointestinal transit time

A deviation from the normal amount of time required for food to pass through the intestines.


Absent TSH response to thyrotrophin-releasing hormone stimulation test

Failure to increase serum TSH levels in response to a TRH stimulation test.


Brachioradialis hyperreflexia

Increased intensity of the brachioradialis reflex.


Ivory epiphyses of the 3rd toe

Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Abnormal neck blood vessel morphology

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


Thickened glomerular basement membranes with electron dense deposits


Abnormal proportion of class-switched memory B cells

A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


Lower thoracic kyphosis

Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.


Myeloschisis

The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.


Abnormality of the common coagulation pathway

An abnormality of blood coagulation, common pathway.


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.


Absent cremaster reflex

Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.


Palate telangiectasia

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.


Oral cavity telangiectasia

Presence of telangiectases in the oral cavity.


Mosaic attenuation pattern on pulmonary HRCT

A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


Subluxation of the proximal interphalangeal joint of the little finger

A partial dislocation of the proximal interphalangeal joint of the little finger.


Truncal titubation

Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.


Advanced ossification of the hand bones

Ossification of hand bones at an earlier age than normal.


Increased circulating purine concentration

Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormal hand cortical bone morphology

An anomaly of the outer shell (cortex) of a hand bone.


Decreased circulating progesterone

An reduced concentration of progesterone in the blood.


Tracheal rupture

A break or tear in the trachea.


Abnormal circulating enzyme concentration or activity

Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


Abnormal vas deferens morphology

A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.


Anti-GT1a IgG antibody positivity

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


Polysplenia

Polysplenia is a congenital disease manifested by multiple small accessory spleens.


Alkalemia

An abnormally high blood pH (usually defined as 7.41 or above).


Intestinal lymphoid nodular hyperplasia

A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.


Chronic neutropenia

Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.


Macrovesicular hepatic steatosis

A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.


Enlarged epiphysis of the middle phalanx of the 4th toe


Abnormal finger phalanx morphology

Abnormalities affecting the phalanx of finger.


Glomerular amyloid subepithelial deposits

A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Small pituitary gland

An abnormally decreased size of the pituitary gland.


Increased proportion of HLA DR+ T cells

An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.


Ulnar bowing

Bending of the diaphysis (shaft) of the ulna.


Abnormal lingual artery morphology

Any structural abnormality of a lingual artery.


atransferrinemia

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


Myelin tomacula

The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


Granulomatous arteriolitis of the arteriolar intima/media

A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Visceral epithelial cell hyperplasia

Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Agenesis of first permanent molar tooth

Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


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

A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


Abnormality of the epiphyses of the feet

Any abnormality of the epiphyses of the feet.


Metabolic ketoacidosis

A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


Bacterial cell casts

A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


spondyloepimetaphyseal dysplasia, Strudwick type

A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


Reduced collaborative play

Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.


Anti-Iglon5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).


Gastrointestinal duplication

A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


Abnormal morphology of the proximal phalanx of the 3rd toe

An anomaly of the proximal phalanx of third toe.


Absent metacarpal epiphyses

Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.


Pulmonary capillary angioectasia

Focal accumulation of dilated pulmonary capillaries.


Glomerular proteinuria

A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.


Long thumb

Length of the thumb is greater than normal.


Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Dagger-shaped pulp calcifications

Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Metastatic angiosarcoma

An angiosarcoma that has spread to another anatomical site.


Ectopic respiratory mucosa

Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.


Abnormal humeral ossification

An anomaly of the process of formation of bone in the humerus.


Abnormality of the epiphysis of the 5th metacarpal

Any abnormality of the epiphysis of the fifth metacarpal bone.


alobar holoprosencephaly

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


Metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphyses.


Segmentally thickened glomerular basement membrane

Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.