Moderately reduced visual acuity

description: Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.


Developmental cataract

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

description: A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.


Ciliary body coloboma

description: A coloboma of the ciliary body.


name: Ultra-low vision with retained light projection

description: Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.


Mild hypermetropia

description: A form of hypermetropia with not more than +2.00 diopters.


Conjunctival papillae

description: Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.


Centrocecal scotoma

description: A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.


Absent corneal reflex

description: Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.


Macular schisis

description: Splitting of the retina in the macular region.


name: congenital fibrosis of extraocular muscles

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

description: Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.


choroideremia

description: Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.


name: Abnormal timing of pattern electroretinogram


optic disk drusen

description: Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)


staphyloma posticum

description: A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Bone spicule pigmentation of the retina

description: Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).


coloboma of choroid and retina

description: Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.


Conjunctival membrane

description: Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface.


Iris flocculi

description: Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.


xanthoma

description: A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.


name: Central retinal vessel vascular tortuosity

description: The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).


Hamartoma of the eye

description: A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.


name: Nonprogressive restrictive external ophthalmoplegia

description: Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.


Abnormal oblique muscle physiology

description: A functional anomaly of the inferior or superior oblique muscle.


Ocular hypertension

description: Intraocular pressure that is 2 standard deviations above the population mean.


Absent anterior chamber of the eye

description: Absence of the anterior chamber of the eye owing to a developmental defect.


Conjunctival icterus

description: Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.


Anterior chamber red blood cells

description: The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.


Capsular cataract

description: A cataract that affects the capsule of the lens.


Abnormal size of the palpebral fissures

description: An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.


Retinopathy of prematurity stage 4

description: Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.


Abnormal electroretinogram

description: Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.


nuclear cataract

description: A cataract (disease) that involves the lens nucleus.


Severely reduced visual acuity

description: Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.


Macular cotton wool spot

description: Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.


Hypoautofluorescent macular lesion

description: Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.


Iris hypoperfusion

description: Reduction in the amount of blood flow to the iris.


Ocular melanocytosis

description: A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.


Ophthalmic artery occlusion

description: A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.


branch retinal artery occlusion

description: An occlusion of a branch of the retinal artery.


Anterior chamber flare grade 1+

description: Faint anterior chamber flare.


coloboma of eyelid

description: A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.


Congenital blindness

description: Blindness with onset at birth.


Hyperopic astigmatism

description: A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.


Increased vertical cup-to-disc ratio

description: An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.


Constant exotropia

description: A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.


Hypometric horizontal saccades

description: Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.


Retinal dots

description: Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.


Peripheral visual field loss

description: Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.


Iris hypopigmentation

description: An abnormal reduction in the amount of pigmentation of the iris.


name: Eversion of lateral third of lower eyelids


description: A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.


Visual gaze preference

description: An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.


Dysmetric vertical saccades

description: Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.


name: ankyloblepharon filiforme adnatum-cleft palate syndrome

description: Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.


Horizontal jerk nystagmus

description: Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.


paralytic strabismus

description: An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.


Inferior rectus muscle underaction

description: Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Anterior lenticonus

description: A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.


Abnormal macular morphology

description: A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.


Heliotrope rash of eyelid

description: Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.


name: Ultra-low vision with retained light perception

description: Ultra-low vision but with retained ability to perceive the difference between light and dark.


Compensatory face turn to the left

description: A tendency to turn the face to the left to compensate for a limitation of eye movement.


Iridodonesis

description: Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.


Abnormal nasolacrimal system morphology

description: An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.


name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium

description: Sharply demarcated hyperpigmentation which is congenital.


Concomitant strabismus

description: Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.


Reticular pigmentary degeneration

description: A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.


congenital glaucoma

description: A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.


Near exotropia

description: An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).


blepharochalasis

description: An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.


Limited extraocular movements

description: Limited mobility of the eye within its socket.


Absent lower eyelashes

description: Lack of eyelashes on the lower lid.


Abnormal ocular alignment

description: Any deviation from the normal ocular alignment.


Blurred vision

description: Lack of sharpness of vision resulting in the inability to see fine detail.


Compensatory chin depression

description: A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.


Lateral rectus muscle weakness

description: Decreased strength (ability to move) of the lateral rectus muscle.


Conjunctival whitish salt-like deposits

description: The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.


Optic nerve arteriovenous malformation

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


Inferior lens subluxation

description: Partial displacement of the lens in the inferior direction.


Photoreceptor layer loss on macular OCT

description: Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.


Kayser-Fleischer ring

description: Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.


Heterophoria

description: Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.


Brief tear break-up time

description: Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal.


Trichiasis

description: Inversion and rubbing of the eyelashes against the globe of the eye.


Paroxysmal tonic upgaze

description: Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.


Abnormal corneal reflex

description: An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.


name: Abnormal light- and dark-adapted electroretinogram

description: An abnormality of the combined rod-and-cone response on electroretinogram.


Abnormal pupil morphology

description: An abnormality of the pupil.


Retinal astrocytic hamartoma

description: A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.


Eccentric visual fixation

description: A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.


Thin eyebrow

description: Decreased diameter of eyebrow hairs.


Corneolenticular adhesion

description: Developmental abnormality in which the lens and cornea are not separated.


Highly arched eyebrow

description: Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.


Posterior cortical cataract

description: A cataract that affects the posterior part of the cortex of the lens.


Moderate hypermetropia

description: A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.


hyperpigmentation of eyelid

description: Over-production of pigment in the eyelid.


Spasmus nutans

description: Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.


name: Compensatory head tilt to the left shoulder

description: A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.


name: Abnormal posterior eye segment morphology


Incyclophoria

description: A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.


Synophrys

description: Meeting of the medial eyebrows in the midline.


name: Abnormal Vistech contrast sensitivity test

description: An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.


Corneopalpebral synechiae

description: An adhesion between the conjunctiva of the eyelid and the cornea.


Central opacification of the cornea

description: Reduced transparency of the central portion of the corneal stroma.


Oval pupil

description: An abnormal pupil shape that is elliptical, i.e., egg-like.


Opsoclonus

description: Bursts of large-amplitude multidirectional saccades without intersaccadic interval


name: Increased Arden ratio of electrooculogram

description: An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.


Esophoria

description: A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.


Incomitant strabismus

description: Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.


Retinopathy of prematurity stage 4a

description: A detachment that involves the peripheral retina that does not extend into the macula.


Abnormal extraocular muscle physiology

description: A functional anomaly of the muscles of the eye.


Dull foveal reflex

description: Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.


Superior rectus muscle restriction

description: Mechanical limitation of the range of movement of the superior rectus muscle.


Polypoidal choroidal vasculopathy

description: The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.


Hypopigmentation of the fundus

description: Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).


Asteroid hyalosis

description: The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.


Anomalous trichromacy

description: Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.


White eyelashes

description: White color (lack of pigmentation) of the eyelashes.


Hyperpigmentation of the fundus

description: Increased pigmentation of the fundus


name: Abnormal Humphrey SITA 24-2 perimetry test


Brow ptosis

description: Drooping of the upper eyebrow below the superior orbital rim.


Cyclic esotropia

description: Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.


Band keratopathy

description: An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.


Generalized opacification of the cornea

description: Generalized reduced transparency of the stroma of the cornea.


hordeolum

description: An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.


name: Abnormal timing of light-adapted single flash electroretinogram


retrobulbar neuritis

description: Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.


Hyperautofluorescent retinal lesion

description: Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


name: Abnormal suspensory ligament of lens morphology

description: An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.


Anterior staphyloma

description: A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Infantile constant esotropia

description: Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.


Peripheral retinal detachment

description: Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.


description: A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.


congenital stationary night blindness

description: A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.


Christmas tree cataract

description: A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.


Chemosis

description: Edema (swelling) of the bulbar conjunctiva.


Spontaneous rupture of the globe

description: Rupture of the eyeball not due to trauma.


Abnormal rectus muscle physiology

description: A functional anomaly of a vertical or horizontal rectus muscle.


Optically empty vitreous

description: Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.


Elevated blink rate

description: The frequecy with which the eye is blinked is above the upper limit of normal.


Retinal calcification

description: Deposition of calcium salts in the retina.


Anterior chamber cells grade 3+

description: Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


name: Irregular central macular autofluorescence


snowflake vitreoretinal degeneration

description: Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.


Abnormal eye morphology

description: A structural anomaly of the globe of the eye, or bulbus oculi.


Anterior chamber flare grade 4+

description: Intense anterior chamber flare (fibrin/plastic aqueous).


name: Oil-drop brown pigmentation of the corneal limbus

description: Brown pigment spots in the limbus (border between the cornea and the sclera).


description: Abnormal migration of corneal endothelium.


Absent eyebrow

description: Absence of the eyebrow.


Retinal nonattachment

description: Failure of attachment of the retina during development.


Lamellar pulverulent cataract

description: A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.


name: Posterior crocodile shagreen of the cornea

description: Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.


Abnormality of the ocular adnexa

description: An 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.


Horizontal pendular nystagmus

description: Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.


Thick eyebrow

description: Increased density/number and/or increased diameter of eyebrow hairs.


cicatricial entropion

description: Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.


Protanopia

description: Blue and green cones only; no functional red cones.


Conjunctival dermolipoma

description: A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.


pulverulent cataract

description: A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.


Posterior polar cataract

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


Pseudophakia

description: 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

description: An abnormal anteroposterior thickness of the cornea.


Punctate opacification of the cornea

description: Punctate opacification (reduced transparency) of the corneal stroma.


name: Abnormal anterior eye segment morphology

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


Limbal edema

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


Perifoveal hypoautofluorescence

description: 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.


name: Abnormal distribution of retinal arterioles and venules


cone dystrophy

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


Vitreomacular adhesion

description: 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

description: 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

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


Progressive external ophthalmoplegia

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


name: Increased vertical cup-to-disc ratio - 0.8

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


name: Foveal inner retinal layer loss on macular OCT


Dysmetric horizontal saccades

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


Posterior blepharitis

description: 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.


enophthalmos

description: Abnormal recession of the eyeball within the eye socket.


Hypotelorism

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


Focal subretinal deposits

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


Lateral rectus muscle restriction

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


Inferior chorioretinal coloboma

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


Scleral thickening

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


Adult-onset night blindness

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


Abnormality of foveal pigmentation

description: An anomaly of the pigmentation in the fovea centralis.


Ectopic cilia of eyelid

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


Keratoglobus

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


Incyclotropia

description: 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

description: Pale often indistinct lesions of the macula.


Alternating hyperphoria

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


Abnormal visual accommodation

description: 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

description: Prominence of blood vessels of the deep episcleral tissues.


Iris pigment dispersion

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


Against the rule astigmatism

description: Astigmatism with more plus power on the horizontal meridian.


Infantile constant exotropia

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


Burning eye sensation

description: A feeling of stinging or irritation of the eyes.


Increased axial length of the globe

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


Inferior oblique muscle overaction

description: 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

description: Absence or underdevelopment of the lens.


name: Impaired pursuit initiation and maintenance


Hypermetric saccades

description: A saccade that overshoots the target with the dynamic saccade.


intermediate uveitis

description: Inflammation of the pars plana.


Abnormal eyelid physiology

description: Any functional abnormality of the eyelid.


Lens coloboma

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


Macular thickening

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


Iris cyst

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


Gaze-evoked horizontal nystagmus

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


glaucoma 3A

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


primary angle-closure glaucoma

description: 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

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


Vitreous strands

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


retinal telangiectasia

description: Dilatation of small blood vessels of the retina.


Distance exotropia

description: 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

description: 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

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


cone-rod dystrophy 21

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


Dark choroid

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


Retinopathy of prematurity zone III

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


Foveal hemorrhage

description: Bleeding occurring within the fovea.


Iris nevus

description: 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

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


Corneal pterygium

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


bradyopsia

description: 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

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


name: Abnormality of pattern reversal visual evoked potentials


name: Foveal subretinal hyporeflective spaces on macular OCT


Lacrimal duct stenosis

description: Narrowing of a tear duct (lacrimal duct).


Abnormal eyelash morphology

description: An abnormality of the eyelashes.


name: Increased OCT-measured macular thickness


Tortuosity of conjunctival vessels

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


Fractured orbit of skull

description: A partial or complete breakage of the orbit of skull.


Medial rectus muscle underaction

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


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

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


Retinitis pigmentosa inversa

description: 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

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


Ablepharon

description: Absent eyelids.


anterior segment dysgenesis

description: 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

description: Partial dislocation of the lens in a superior direction.


Retinal nerve fiber edema

description: Swelling (edema) of the retinal nerve fibers.


Glial remnants posterior to lens

description: 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.


name: Small yellow foveal lesion with surrounding gray zone

description: 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

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


aniridia

description: 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+

description: 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

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


Aplasia/Hypoplasia affecting the uvea

description: 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

description: 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

description: 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

description: 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

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


Decreased lacrimation

description: Abnormally decreased lacrimation, that is, reduced ability to produce tears.


Saccadic oscillation

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


Lacrimation abnormality

description: Abnormality of tear production.


Choroidal nevus

description: A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.


Dot-and-blot retinal hemorrhage

description: 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.


cataract 16 multiple types

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


name: Abnormal horizontal rectus muscle physiology

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


Membranous cataract

description: 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

description: Decreased length of the eyelashes (subjective).


Giant conjunctival papillae

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


Excyclotropia

description: 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

description: Multiple pupils.


Inferior oblique muscle restriction

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


Horizontal nystagmus

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


Basic constant exotropia

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


Ophthalmoparesis

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


Hypoplasia of the ciliary body

description: Underdevelopment of the ciliary body.


Abnormal fundus morphology

description: Any structural abnormality of the fundus of the eye.


Limited vertical extraocular movement

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


Hypermetric horizontal saccades

description: Overshoot of horizontal (sideways) saccadic eye movements.


name: Congenital stationary night blindness with abnormal fundus


Abnormal involuntary eye movements

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


Conjunctival follicles

description: Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.


Bussaca nodules

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


Scintillating scotoma

description: A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.


fundus albipunctatus

description: 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.


Photopsia

description: Perceived flashes of light.


Impaired horizontal smooth pursuit

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


Eye movement-induced pain

description: 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

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


retinal microaneurysm

description: 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

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


name: Severe constriction of peripheral visual field

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


Optic pit

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


Iris transillumination defect

description: 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

description: 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

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


Central heterochromia

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


Abnormal pattern electroretinogram

description: 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

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


Retinal crystals

description: Crystalline deposits in the retina.


Juvenile cataract

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


Abnormality of fundus pigmentation

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


Short palpebral fissure

description: Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.


Superior rectus muscle weakness

description: Decreased strength of the superior rectus muscle.


Decreased corneal reflex

description: 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

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


Anterior chamber inflammatory cells

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


peripheral retinal degeneration

description: Degeneration of the peripheral retina.


Lisch nodules

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


Triangular nuclear cataract

description: A nuclear cataract with a triangular form.


Focal sub-RPE deposits

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


name: Abnormal amplitude of pattern electroretinogram


retinal cancer

description: A malignant neoplasm involving the retina.


Bilateral microphthalmos

description: A developmental anomaly characterized by abnormal smallness of both eyes.


name: Ultra-low vision with retained motion projection

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


ocular albinism

description: 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.


arcus senilis

description: A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.


name: Abnormal timing of light-adapted flicker electroretinogram


Spontaneous conjunctival filtering bleb

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


name: Abnormal retinal morphology on macular OCT


name: Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Abnormality of eye movement

description: An abnormality in voluntary or involuntary eye movements or their control.


Seesaw nystagmus

description: 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

description: 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.


name: Subretinal pigment epithelium hemorrhage

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


name: Perifoveal ring of hyperautofluorescence


Abnormal uvea morphology

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


Cerebral visual impairment

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


Red eye

description: A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.


Axenfeld anomaly

description: 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

description: An abnormality of the palpebral conjunctiva.


name: Abnormal paracentral response of multifocal electroretinogram


Abnormal corneal limbus morphology

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


Posterior lenticonus

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


Poor visual behavior for age

description: 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

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


megalocornea

description: 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.


Ophthalmoplegia

description: Paralysis of one or more extraocular muscles that are responsible for eye movements.


orbital cyst

description: Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).


Abnormal iris pigmentation

description: Abnormal pigmentation of the iris.


Foveal depigmentation

description: Loss of pigment in the fovea centralis.


Optic nerve dysplasia

description: The presence of developmental dysplasia of the optic nerve.


name: Abnormal timing of pattern reversal visual evoked potentials


Abnormal ocular adnexa physiology

description: 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

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


Bitot spots of the conjunctiva

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


retinal arterial tortuosity

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


Increased cup-to-disc ratio

description: An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (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

description: Increased length of the hairs of the eyebrows.


name: Abnormal timing of dark-adapted bright flash electroretinogram


Downbeat nystagmus

description: 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

description: 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

description: Decreased amount of pigmentation in the fovea centralis.


name: Glial remnants anterior to the optic disc

description: Persistence of a posterior remnant of the hyaloid artery located at the optic disc.


Drusen

description: 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

description: Increased length of the upper eyelashes.


Lacrimal pump failure

description: 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

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


Peripheral opacification of the cornea

description: Reduced transparency of the peripheral region of the cornea.


hyalitis

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


Opacification of the corneal epithelium

description: Lack of transparency of the corneal epithelium.


Peripapillary exudate

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


Posterior capsular cataract

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


Retinal pigment epithelial mottling

description: 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.


name: Abnormal Pelli Robson contrast sensitivity chart test

description: 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

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


cornea plana

description: A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.


Superior oblique muscle weakness

description: Decreased strength of the superior oblique muscle.


name: Posterior synechiae of the anterior chamber

description: Adhesions between the iris and the lens.


Stellate iris

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


Peripheral vitreoretinal degeneration

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


name: Abnormality of the vasculature of the eye


Lipemia retinalis

description: 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

description: Abnormal development of the choroid and retina.


name: Iridescent posterior subcapsular cataract

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


Abnormal corneal epithelium morphology

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


Unilateral narrow palpebral fissure

description: A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.


Medial rectus muscle overaction

description: 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.


name: non-arteritic anterior ischemic optic neuropathy

description: An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.


Superior rectus muscle overaction

description: 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

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


Corneal erosion

description: An erosion or abrasion of the cornea's outermost layer of epithelial cells.


Lipomas of eyelids

description: Fatty tumors on the eyelids.


A glucuronosylinositol phosphorylceramide in which the acyl group is hydroxylated at position 2 and the ceramide base is hydroxylated at position 4.


An unsaturated fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of (3R,17Z,20Z,23Z,26Z,29Z)-3-hydroxydotriacontapentaenoic acid.


name: sodium/potassium/calcium exchanger 5, signal peptide removed form (human)

description: A sodium/potassium/calcium exchanger 5 (human) that has had the signal peptide removed. UniProtKB:Q71RS6, 30-500.


name: Rho GTPase-activating protein 32 isoform h3 (human)

description: A Rho GTPase-activating protein 32 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A7KAX9-3.


name: LYRM2_HUMAN LYR motif-containing protein 2 (sprot)

description: A LYR motif-containing protein 2 that is encoded in the genome of human.


PHD finger protein 6 isoform h3 (human)

A PHD finger protein 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IWS0-3.


A member of the class of 2-polyprenylphenol in which the polyprenyl component is specified as heptaprenyl.


name: CYSZ_ECOLI Sulfate transporter CysZ (sprot)

description: A sulfate transporter CysZ that is encoded in the genome of Escherichia coli K-12.


sulfate transporter CysZ

A protein that is a translation product of the Escherichia coli K-12 cysZ gene or a 1:1 ortholog thereof.


name: 26S proteasome regulatory subunit 8, initiator methionine removed form (human)

description: A 26S proteasome regulatory subunit 8, initiator methionine removed form in human. Example: UniProtKB:P62195-1, 2-406.


name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h2 (human)

description: A procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q02809-2.


name: cysteine-rich protein 3 isoform h1 (human)

description: A cysteine-rich protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6Q6R5-1.


name: RelA-associated inhibitor methylated 1 (human)

description: A RelA-associated inhibitor (human) that has been methylated on the residue at the position equivalent to Arg-142 of the amino acid sequence represented by UniProtKB:Q8WUF5. UniProtKB:Q8WUF5, Arg-142, MOD:00658.


name: OSTC_DANRE Oligosaccharyltransferase complex subunit ostc (sprot)

description: An oligosaccharyltransferase complex subunit OSTC that is encoded in the genome of zebrafish.


name: oligosaccharyltransferase complex subunit ostc isoform 1 (zebrafish)

description: An oligosaccharyltransferase complex subunit OSTC isoform 1 that is encoded in the genome of zebrafish.


name: CDC26_DANRE Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of zebrafish.


name: anaphase-promoting complex subunit CDC26

description: A protein that is a translation product of the human CDC26 gene or a 1:1 ortholog thereof.


name: CDC26_MOUSE Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of mouse.


name: anaphase-promoting complex subunit CDC26 isoform 1 (rat)

description: An anaphase-promoting complex subunit CDC26 isoform 1 that is encoded in the genome of rat.


name: anaphase-promoting complex subunit CDC26 isoform 1

description: An anaphase-promoting complex subunit CDC26 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NHZ8-1 or a 1:1 ortholog thereof.


name: anaphase-promoting complex subunit CDC26 isoform 1 (human)

description: An anaphase-promoting complex subunit CDC26 isoform 1 that is encoded in the genome of human.


name: CDC26_HUMAN Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of human.


name: anaphase-promoting complex subunit CDC26 isoform 1 (mouse)

description: An anaphase-promoting complex subunit CDC26 isoform 1 that is encoded in the genome of mouse.


name: CDC26_RAT Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of rat.


name: WECA_ECOLI Undecaprenyl-phosphate alpha-N-acetylglucosaminyl 1-phosphate transferase (sprot)

description: An undecaprenyl-phosphate alpha-N-acetylglucosaminyl 1-phosphate transferase that is encoded in the genome of Escherichia coli K-12.


name: FBK96_ARATH F-box/kelch-repeat protein At4g39240 (sprot)

description: A protein that is a translation product of the At4g39240 gene in Arabidopsis thaliana.


name: breast cancer type 2 susceptibility protein sequence variant E2129* (human)

description: A breast cancer type 2 susceptibility protein (human) that has has been truncated after the position equivalent to Lys-2128 of the amino acid sequence represented by UniProtKB:P51587. UniProtKB:P51587, 1-2128.


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

description: High-grade B-cell lymphoma, not otherwise specified, that arises from the small intestine.


Mietens syndrome

description: 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.


name: Brain-Derived Neurotropic Factor Deficiency

description: Presumed deficiency of brain-derived neurotropic factor (BDNF), associated with loss-of-function mutation(s) in the BDNF gene.


name: YGID_SCHPO Uncharacterized protein C2A9.13 (sprot)

description: A protein that is a translation product of the SPBC2A9.13 gene in Schizosaccharomyces pombe 972h-.


name: signal recognition particle subunit SRP72, initiator methionine removed form

description: A signal recognition particle subunit SRP72 that has had the initiator methionine removed.


name: signal recognition particle subunit SRP72, initiator methionine removed form (human)

description: A signal recognition particle subunit SRP72 (human) that has had the initiator methionine removed. UniProtKB:O76094, 2-671.


exportin-6 isoform 1 (human)

An exportin-6 isoform 1 that is encoded in the genome of human.


glycogenin-1 isoform 1 (mouse)

A glycogenin-1 isoform 2 that is encoded in the genome of mouse.


GLYG_MOUSE Glycogenin-1 (sprot)

A glycogenin-1 that is encoded in the genome of mouse.


name: integrator complex subunit 8 citrullinated 1 (human)

description: An integrator complex subunit 8 (human) that has been citrullinated on the residue at the position equivalent to Arg-745 of the amino acid sequence represented by UniProtKB:Q75QN2-1. Example: UniProtKB:Q75QN2-1, Arg-745, MOD:00219.


name: PB2_I83A5 Polymerase basic protein 2 (sprot)

description: A polymerase basic protein 2 (Influenza A virus) that is encoded in the genome of the H5N2 strain A/Chicken/Pennsylvania/1/1983.


name: ferritin light chain, initiator methionine removed form (human)

description: A ferritin light chain (human) that has had the initiator methionine removed. UniProtKB:P02792, 2-175.


Burning Sensation

description: A sensation of stinging or heat, not necessarily accompanied by redness or physical signs of irritation.


Skin Burning Sensation

description: A sensation of dermal stinging or heat, not necessarily accompanied by redness or physical signs of skin irritation.


name: CTU2_DROME Cytoplasmic tRNA 2-thiolation protein 2 (sprot)

description: A protein that is a translation product of the CG10189 gene in fruit fly.


name: RT21_SCHPO Small ribosomal subunit protein bS21m (sprot)

description: A protein that is a translation product of the mrp21 gene in Schizosaccharomyces pombe 972h-.


vanillin acetate

A phenyl acetate obtained by the formal condensation of phenolic group of vanillin with acetic acid.


name: multicentric osteolysis, nodulosis, and arthropathy

description: 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.


description: 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

description: 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.


GAG_SIVGB Gag polyprotein (sprot)

A lentivirus-type gag polyprotein that is encoded in the genome of Simian immunodeficiency virus (isolate GB1).


name: oxidation resistance protein 1 isoform h2 (human)

description: An oxidation resistance protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N573-2.


name: DNA replication licensing factor MCM6 methylated 1 (human)

description: A DNA replication licensing factor MCM6 (human) that has been methylated on the residue at the position equivalent to Cys-242 of the amino acid sequence represented by UniProtKB:Q14566. UniProtKB:Q14566, Cys-242, MOD:00660.


pro-neuropeptide Y isoform 1 (mouse)

A neuropeptide Y isoform 1 that is encoded in the genome of mouse.


(-)-gamma-cadinene

A member of the cadinene family of sesquiterpenes in which the isopropyl group is cis to the hydrogen at the adjacent bridgehead carbon (the 1R,4aS,8aS enantiomer).


name: Stage IIIA Retroperitoneal Sarcoma AJCC v8

description: 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

description: A sarcoma involving a retroperitoneal space.


Adrenal Gland Leiomyosarcoma

description: A rare leiomyosarcoma that arises from the adrenal gland.


name: Retroperitoneal Malignant Peripheral Nerve Sheath Tumor

description: Malignant peripheral nerve sheath tumor that arises in the retroperitoneum.


name: Stage IIIB Retroperitoneal Sarcoma AJCC v8

description: 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

description: 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.)


name: Stage IA Retroperitoneal Sarcoma AJCC v8

description: 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

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


name: Stage III Retroperitoneal Sarcoma AJCC v8

description: 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

description: A rhabdomyosarcoma arising from the retroperitoneum.


name: Stage II Retroperitoneal Sarcoma AJCC v8

description: 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.)


name: Retroperitoneal Undifferentiated Pleomorphic Sarcoma

description: A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum.


name: Retroperitoneal Sarcoma by AJCC v8 Stage

description: 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

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


name: Stage IV Retroperitoneal Sarcoma AJCC v8

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


Adrenal Gland Sarcoma

description: A rare sarcoma that arises from the adrenal gland.


name: Stage IB Retroperitoneal Sarcoma AJCC v8

description: 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.)


name: transforming growth factor beta-1-induced transcript 1 protein isoform m5 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-5.


name: transforming growth factor beta-1-induced transcript 1 protein

description: A protein that is a translation product of the human TGFB1I1 gene or a 1:1 ortholog thereof.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m9 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-9.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m6 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-6.


name: transforming growth factor beta-1-induced transcript 1 protein isoform h2 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43294-2.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein isoform 1 that is encoded in the genome of mouse.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1

description: A transforming growth factor beta-1-induced transcript 1 protein that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43294-1 or a 1:1 ortholog thereof.


name: transforming growth factor beta-1-induced transcript 1 protein phosphorylated 1 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein (human) that has been phosphorylated on the residue at the position equivalent to Tyr-60 of the amino acid sequence represented by UniProtKB:O43294-1. Example: UniProtKB:O43294-1, Tyr-60, MOD:00048.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m2 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-2.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m8 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-8.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m10 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-10.


name: TGFI1_MOUSE Transforming growth factor beta-1-induced transcript 1 protein (sprot)

description: A transforming growth factor beta-1-induced transcript 1 protein that is encoded in the genome of mouse.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m7 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-7.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m3 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-3.


name: transforming growth factor beta-1-induced transcript 1 protein isoform m4 (mouse)

description: A transforming growth factor beta-1-induced transcript 1 protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62219-4.


name: transforming growth factor beta-1-induced transcript 1 protein phosphorylated 2 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-68 of the amino acid sequence represented by UniProtKB:O43294-1. Example: UniProtKB:O43294-1, Ser-68, MOD:00046.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1 (rat)

description: A transforming growth factor beta-1-induced transcript 1 protein isoform 1 that is encoded in the genome of rat.


name: TGFI1_RAT Transforming growth factor beta-1-induced transcript 1 protein (sprot)

description: A transforming growth factor beta-1-induced transcript 1 protein that is encoded in the genome of rat.


name: TGFI1_HUMAN Transforming growth factor beta-1-induced transcript 1 protein (sprot)

description: A transforming growth factor beta-1-induced transcript 1 protein that is encoded in the genome of human.


name: transforming growth factor beta-1-induced transcript 1 protein isoform 1 (human)

description: A transforming growth factor beta-1-induced transcript 1 protein isoform 1 that is encoded in the genome of human.


Abnormal T cell proliferation

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


Defective T cell proliferation

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


name: Reduced antigen-specific T cell proliferation

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


name: ADP/ATP translocase 3 methylated 1 (human)

description: An ADP/ATP translocase 3 (human) that has been methylated on the residue at the position equivalent to Cys-57 of the amino acid sequence represented by UniProtKB:P12236. UniProtKB:P12236, Cys-57, MOD:00660.


name: ECEL1_RAT Endothelin-converting enzyme-like 1 (sprot)

description: An endothelin-converting enzyme-like 1 that is encoded in the genome of rat.


endothelin-converting enzyme-like 1

A protein that is a translation product of the human ECEL1 gene or a 1:1 ortholog thereof.


name: endothelin-converting enzyme-like 1 isoform h2 (human)

description: An endothelin-converting enzyme-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95672-2.


name: endothelin-converting enzyme-like 1 isoform h1 (human)

description: An endothelin-converting enzyme-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95672-1.


name: ECEL1_MOUSE Endothelin-converting enzyme-like 1 (sprot)

description: An endothelin-converting enzyme-like 1 that is encoded in the genome of mouse.


name: ECEL1_HUMAN Endothelin-converting enzyme-like 1 (sprot)

description: An endothelin-converting enzyme-like 1 that is encoded in the genome of human.


NPL21_CAEEL Neprilysin-21 (sprot)

An endothelin-converting enzyme-like 1 that is encoded in the genome of worm.


name: Decreased circulating fetuin A concentration

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


name: Anti-nucleolus-organizing region antibody positivity

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


Abnormal sperm head morphology

description: A structural abnormality of the sperm head.


name: Renal arteriolar lumen organized thrombi

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


Upper limb phocomelia

description: 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

description: An abnormality of the ovulation cycle.


Class III obesity

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


Internal hemorrhage

description: The presence of hemorrhage within the body.


Ethmocephaly

description: 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

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


Agenesis of incisor

description: Agenesis of incisor.


Excessively quiet voice

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


name: Abnormal cortical peritubular capillary lumen morphology

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


name: Abnormal circulating tyrosine concentration

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


name: Subtentorial periventricular white matter hyperdensity

description: 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).


name: Absence of secondary sex characteristics

description: No secondary sexual characteristics are present at puberty.


name: Symphalangism affecting the middle phalanges of the toes


Circumungual hyperkeratosis

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


Upper motor neuron dysfunction

description: A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.


Spider hemangioma

description: 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.


name: Decreased sweating due to autonomic dysfunction


Supraclavicular lymphadenopathy

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


name: Bracket epiphysis of the distal phalanx of the 5th toe


name: Increased insulin like growth factor binding protein acid labile subunit concentration

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


name: Superficial dermal perivascular inflammatory infiltrate

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


Cervical ectopia cordis

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


name: Elevated circulating 2-aminoadipic acid concentration

description: The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal.


Hypoplasia of the uterus

description: Underdevelopment of the uterus.


name: Proximal/middle symphalangism of 4th toe

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


factor VII deficiency

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


Slow-growing nails

description: Nails whose growth is slower than normal.


Chronic decreased circulating IgG4

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


Irregular tarsal ossification

description: 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

description: Complete or almost complete absence of enamel.


Hypoactive bowel sounds

description: An decreased amount of bowel sounds.


name: Abnormal circulating vitamin B12 concentration

description: 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

description: 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

description: 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

description: A partial or complete breakage of the metaphysis of femur.


Joint contracture of the 5th finger

description: 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

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


name: Large cafe-au-lait macules with irregular margins

description: Large hypermelanotic macules with jagged borders.


Decreased level of plasminogen

description: A decreased level of Plasminogen


name: Elevated circulating cartilage oligomeric matrix protein concentration

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


Small cerebellar cortex

description: Reduced size of the cerebellar cortex.


Multifocal breast carcinoma

description: Breast carcinoma that is bilateral or otherwise multifocal.


name: Renal arteriole lymphocyte endoarterial hypercellularity

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


Fractured calcaneus

description: A partial or complete breakage of the calcaneus.


Anti-GM3 antibody positivity

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


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


name: Abnormal response to short acting pulmonary vasodilator

description: 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

description: Muscular atrophy affecting the muscles of the limb girdle.


name: EEG with irregular generalized spike and wave complexes

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


Nihilistic delusion

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


female orgasmic disorder

description: A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.


Papillary renal cell carcinoma type 2

description: 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.


name: Focal impaired awareness sexual automatism seizure

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


Folate deficiency in CSF

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


name: Glomerular basement membrane electron dense deposits

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


name: Patchy sclerosis of the distal phalanx of the 3rd finger

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


Abnormality of the outer ear

description: An abnormality of the external ear.


Impaired urinary acidification

description: 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

description: Decreased strength of the vocal fold on one side.


Abnormal limb bone morphology

description: Any abnormality of bones of the arms or legs.


name: Triangular shaped phalanges of the 3rd toe


name: Stippling of the epiphyses of the 4th finger

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


Increased anti-venom IgE antibody level

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


Enlarged sperm head vacuole

description: 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

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


Orthodeoxia

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


Overvalued idea

description: An unreasonable and an isolated sustained belief that is maintained with less than delusional intensity (i.e. the person is able is to acknowledge the possibility that the belief may or may not be true). The belief is not of one that is ordinarily accepted by other members of the person's culture or sub-culture.


Abnormality of body height

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


Intrapulmonary lobar sequestration

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


Carnitinuria

description: An elevated level of carnitine in the urine.


name: Increased anti-alpha-gal IgE antibody level

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