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

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

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.


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

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

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


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.


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.


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.


Ectopic lacrimal punctum

description: Positioning of a lacrimal punctum other than at the medial margins of the eyelid.


name: Abnormal levator palpebrae superioris morphology

description: An abnormality of a levator palpebrae superioris.


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.


Eyelid fasciculation

description: Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.


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.


Lacrimal duct aplasia

description: A congenital defect resulting in absence of the lacrimal duct.


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).


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.


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.


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.


Nasolacrimal sac lymphoma

description: A type of lymphoma that involves the nasolacrimal sac.


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.


Malar prominence

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


cataract 16 multiple types

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.


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.


Malformed lacrimal duct

description: Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.


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.


Hooded lower eyelid

description: Lower eyelid partly covered by skin when eyes are open.


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.


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.


Palpebral thickening

description: An increased thickness of the eyelid not related to acute inflammation.


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.


Megaloblepharon

description: Disproportionately large eyelids


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.


Aplastic zygomatic arch

description: Developmental defect characterized by the absence of the zygomatic arch.


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


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).


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


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.


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.


Orbital inflammation

description: An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath.


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.


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.


strabismus

description: Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.


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


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).


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.


Lateral canthal tendon laxity

description: Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.


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


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.


Supernumerary lacrimal punctum

description: A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid.


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.


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.


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.


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.


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: 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: 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: 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: 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.


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: 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.


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.


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.


(-)-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.)


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.)


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

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 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 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 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 (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.


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: 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.


name: Abnormality of the distal femoral epiphysis

description: Any abnormality of the distal epiphysis of the femur.


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.


Double first metacarpals

description: Duplication of the metacarpal I bones.


Forward facing earlobe

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


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


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.


Biceps aplasia

description: Absence of the biceps muscle.


Abnormal rib ossification

description: An anomaly of the process of rib bone formation.


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.


name: Proximal/middle symphalangism of 4th toe

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


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.


Increased intramuscular fat

description: An abnormal increase in the amount of intramuscular fat tissue.


Enamel agenesis

description: Complete or almost complete absence of enamel.


Urine xenobiotic

description: The presence of a xenobiotic in urine.


Abnormality of frontal sinus

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


Hypoactive bowel sounds

description: An decreased amount of bowel sounds.


name: Elevated imprint of the transverse sinuses


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.


name: Abnormal sialylation of N-linked protein glycosylation

description: An anomaly of the addition of sialic acids to N-linked glycans.


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


Fibular aplasia

description: Absence of the fibula.


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.


Hemisacrum

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


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.


Aplasia/Hypoplasia of the 2nd finger

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


Fractured calcaneus

description: A partial or complete breakage of the calcaneus.


Sputum infectious agent

description: The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation.


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.


name: Decreased activity of mitochondrial ATP synthase complex

description: A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.


female orgasmic disorder

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


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.


Upper limb peromelia

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


name: Absent epiphyses of the distal phalanges of the hand


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.


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.


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.


Air crescent sign

description: A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.


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.


Horseshoe kidney

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


Aplasia/Hypoplasia of the tarsal bones

description: Absence or underdevelopment of the tarsal bones.


X-linked calvarial hyperostosis

description: Excessive growth of the calvaria.


Abnormal liver sonography

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


Abnormality of immune system physiology

description: A functional abnormality of the immune system.


name: Cortical thickening of long bone diaphyses

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


Agenesis of mandibular premolar

description: Agenesis of mandibular premolar.


Congenital finger flexion contractures

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


Small earlobe

description: Reduced volume of the earlobe.


Periodic limb movements

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


Widely patent fontanelles and sutures

description: An abnormally increased width of the cranial fontanelles and sutures.


name: Delayed ossification of vertebral epiphysis

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


Decreased plasma total carnitine

description: A decreased concentration of total carnitine in the blood.


Anti-PM-Scl antibody positivity

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


Fractured patella

description: A partial or complete breakage of the patella.


Abnormal ventriculoarterial connection

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


name: Duplication of the distal phalanx of the 4th finger

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


Ivory epiphyses of the 4th toe

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


Disturbed sensory perception

description: Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.


name: Increased circulating troponin T concentration

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


Premature epimetaphyseal fusion in ulna

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


name: Reduced hepatic alanine-glyoxylate aminotransferase activity

description: Activity of alanine-glyoxylate aminotransferase in the liver below the lower limit of normal.


Abnormal pinna morphology

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


Olfactory hallucination

description: Perception of smell without olfactory stimulus.


name: Abnormal urinary electrolyte concentration

description: An abnormality in the concentration of electrolytes in the urine.


Increased nuchal translucency

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


Long nasal bridge

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


Growth arrest lines

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


Abnormal iliac artery morphology

description: Any structural anomaly of the iliac artery.


Hypoplasia of the upper arm musculature

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


Nasogastric tube feeding in infancy

description: Feeding problem necessitating nasogastric tube feeding.


Renal tubular epithelial cell casts

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


name: Abnormal enteric nervous system morphology

description: A structural anomaly of nerves of the enteric nervous system.


name: Increased anti-parasite IgE antibody level

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


name: Fixed splitting of the second heart sound

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


Curved distal phalanx of the 2nd finger

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


name: Abnormal glomerular parietal epithelial cell morphology

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


name: Decreased size of nasopharyngeal adenoids

description: An abnormal decrease in the size of nasopharyngeal adenoids.


name: Duplication of the distal phalanx of the thumb

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


name: congenital anomalies of kidney and urinary tract 2

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.


name: Abnormal tricuspid valve leaflet morphology

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


Abnormal fetal skin morphology

description: Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Bracket epiphyses of the phalanges of the hand

description: Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Thick vermilion border

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


Illusions due to affect

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


Simple ear

description: The pinna has fewer folds and grooves than usual.


name: Elevated circulating C4 acylcarnitine concentration

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


Abnormality of hair pigmentation

description: An abnormality of hair pigmentation (color).


Delayed eruption of teeth

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


Chronic monilial nail infection

description: Chronic infection of the nails by Candida species.


Carotid artery dilatation

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


Arcuate artery lumen cholesterol emboli

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


Underdeveloped tragus

description: Decreased posterolateral protrusion of the tragus.


Abnormal CSF lysine concentration

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


Reduced brain choline level by MRS

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


cardiogenic shock

description: A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.


name: Bracket epiphysis of the proximal phalanx of the 5th finger

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


J-shaped sella turcica

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


Reticular hyperpigmentation

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


name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


name: Anti-multiple nuclear dots antibody positivity

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


Abnormality of the umbilical cord

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


Clavicular sclerosis

description: An increase in bone density within the clavicle.


name: Punctate periventricular T2 hyperintense foci

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


name: Partial absence of specific antibody response to tetanus vaccine

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


Elevated urinary glyoxylic acid level

description: The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.


2-hydroxyadipic aciduria

description: The concentration of 2-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal celiac artery morphology

description: An anomaly of the celiac artery.


name: Pseudoepiphysis of the proximal phalanx of the hallux

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


Capillary malformation of the lip

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


Accessory cardiac bronchus

description: Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.


Tessier number 5 facial cleft

description: The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.


name: Reversed end-diastolic umbilical artery flow

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


Palmar edema

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


name: Stippled calcification of humeral metaphysis


name: Triangular shaped proximal phalanx of the 3rd finger

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


Interlobular vein intima/media necrosis

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


Elevated myocardial native T1

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


name: Osteolytic defects of the phalanges of the 4th toe


Lacunar stroke

description: A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.


Type II pneumocyte hypertrophy

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


name: Elevated CSF dihydrothymine concentration

description: The concentration of dihydrothymine in the cerebrospinal fluid is above the upper limit of normal.


Lymph node necrosis

description: Areas of necrotic tissue within a lymph node.


incisors, lower central, absence of

description: Agenesis of lower secondary incisor or lower primary incisor.


Pleomorphic cholangitis

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


Cystic artery pseudoaneurysm

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


name: Reduced epidermal collagen IV protein expression


teeth present at birth

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


name: Decreased platelet thromboxane A2 receptor

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


Delayed skeletal maturation

description: A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.


Abnormality of the larynx

description: An abnormality of the larynx.


Abnormal anatomic location of the heart

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


Recurrent genital herpes

description: Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.


name: Abnormal platelet alpha granule secretion

description: Abnormal release of alpha granule contents from platelets.


Moon facies

description: A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.


name: Abnormal circulating haptoglobin concentration

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


Anti-titin antibody positivity

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


Symphalangism of the thumb

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


congenital microgastria

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


Bicuspid pulmonary valve

description: The presence of a bicuspid pulmonary valve.


Exercise-induced muscle fatigue

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


Joint contracture of the hand

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


spermatic cord torsion

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


Erosion of oral mucosa

description: Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.


name: Diffuse swelling of cerebral white matter


name: Aplasia/Hypoplasia involving the musculature of the extremities


Shortening of all phalanges of fingers

description: Abnormal reduction in length affecting all phalanges.


Sydney crease

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


name: Positive JC-virus PCR test in the blood circulation

description: Detection of nucleic acid of the JC-virus (JC-Polyomavirus, John Cunningham virus) in the blood circulation.


rickets

description: Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.


name: Decreased specific anti-polysaccharide antibody level

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


Focal aware emotional seizure

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


Lateral femoral bowing

description: A lateral bending or abnormal curvature of the femur.


name: Pulmonary interstitial high-resolution computed tomography abnormality

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


Symphalangism of the 4th finger

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


Abnormal muscle fiber dysferlin

description: A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.


name: Reduced circulating protein Z concentration

description: The concentration of protein Z in the blood circulation is below the lower limit of normal.


name: Shortening of all proximal phalanges of the fingers

description: Congenital hypoplasia of proximal phalanx of finger or all fingers.


Mucinous gastric carcinoma

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


Addictive stimulant use

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


Eruptive vellus hair cyst

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


name: Bullet-shaped proximal phalanx of the 5th finger

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


Moderate generalized osteoporosis

description: Moderate osteoporosis.


Organic aciduria

description: Excretion of non-amino organic acids in urine.


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


name: Limited mobility of proximal interphalangeal joint


Impaired cytokine signaling

description: A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.


Tessier number 3 facial cleft

description: As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.


Abnormal urine phosphate concentration

description: An abnormal phosphate concentration in the urine.


name: Elevated CSF D-2-hydroxyglutaric acid concentration

description: The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Increased level of ribitol in urine

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


name: Renal cortical interstitial inflammation

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


Hypoplastic philtrum

description: Underdevelopment of the philtrum.


name: Reduced hepatic phosphorylase kinase activity

description: Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG.


Hyperplasia of the maxilla

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


Pareidolia

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


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

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


Central cyanosis

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


Anti-factor VIII antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII.


Abnormal geniohyoid muscle morphology

description: An abnormality of a geniohyoid muscle.


Sclerosis of the carpal bones

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


renal dysplasia, bilateral

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


Partial absence of thumb

description: The absence of a phalangeal segment of a thumb.


name: Decreased circulating thyrotropin releasing hormone concentration

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


name: Bullet-shaped proximal phalanx of the thumb

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


Subjective eidetic images

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


Furuncle

description: An infection of a hair follicle that extends subcutaneously, forming an abscess.


Renal lymphangiectasia

description: A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.


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


Dumbbell-shaped femur

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


Bilobate gallbladder

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


Nail bed hemorrhage

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


name: Patchy sclerosis of the proximal phalanx of the thumb

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


Ambiguous atrioventricular connection

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


Severe toxoplasmosis

description: Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).


Anti-HLA-B IgG3 antibody positivity

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


Diaphyseal sclerosis of the upper limbs

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


Hyperbeta-alaninemia

description: Increased concentration of beta-alanine in the blood.


Stiff hip

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


name: Abnormal small intestinal mucosa morphology

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


name: Aplasia cutis congenita over posterior parietal area


Maternal seizure

description: A seizure during pregnancy.


Pulmonary perfusion defect

description: Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.


Decreased urinary uromodulin level

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


name: Abnormal intestinal smooth muscle morphology

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


iniencephaly

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


Elevated urine mesaconic acid level

description: The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Aplasia/Hypoplasia of the palmar creases

description: Absence or underdevelopment of the palmar creases.


name: Wide epiphyseal plates of the upper limbs


Biconcave vertebral bodies

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


name: Abnormal circulating aldolase concentration

description: An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.


name: Symphalangism affecting the proximal phalanges of the hand


name: Elevated circulating desmosterol concentration

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


Left axis deviation

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


name: Complete duplication of the phalanges of the 2nd finger

description: A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Aplasia/Hypoplasia of the middle phalanges of the hand


bilateral generalized polymicrogyria

description: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


Lip fissure

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


name: Reduced intraepidermal small nerve fiber density

description: Reduced number of small nerve fibers in the skin.


Axial muscle stiffness

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


Abnormal cartilage collagen

description: Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.


name: Decreased circulating chylomicron concentration

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


Absent thumbnail

description: Absence of thumb nail.


Short proximal phalanx of toe

description: Developmental hypoplasia (shortening) of proximal phalanx of toe.


Ectopic calcification

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


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

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


Abnormal waist to hip ratio

description: A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.


name: Decreased circulating hydroxyproline concentration

description: A decreased amount of hydroxyproline in the blood.


Large fontanelles

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


Abnormality of somatic nerve plexus

description: Any abnormality of the somatic nerve plexus.


Anti-factor IX antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX.


name: Abnormal circulating cholesterol concentration

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


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


Amyloidosis of peripheral nerves

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


Reduced muscle collagen VI

description: A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.


name: Decreased circulating dehydroepiandrosterone concentration


name: Abnormal circulating atrial natriuretic peptide pro-hormone concentration

description: The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal.


Onychomadesis

description: Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.


Abnormal conus terminalis morphology

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


Abnormal adrenal morphology

description: Any structural anomaly of the adrenal glands.


Lymph node abscess

description: An inflamed lymph node that is filled with pus.


name: Reduced muscle glycogen phosphorylase activity

description: Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase.


Duplicated tragus

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


Facial synkinesis

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


name: Cholesterol emboli within interlobular vein lumen

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


benign cystic nephroma

description: A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.


Flat occiput

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


name: Absent epiphysis of the middle phalanx of the 3rd finger

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


Curved phalanges of the 4th finger

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


Diminished physical functioning

description: A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.


Generalized abnormality of skin

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


Low alkaline phosphatase of bone origin

description: An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.


Impaired vibration sensation at ankles

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


Panacinar emphysema

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


Increased urinary polyhexose

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


name: EEG with photoparoxysmal response grade I

description: Occurrence of epileptiform discharges in occipital regions during photic stimulation.


Abnormal RV/TLC ratio

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


Social disinhibition

description: A tendency to violate social norms because of a failure to resist temptations or urges in social settings.


name: Endopolyploidy on chromosome studies of bone marrow

description: An increase in the number of chromosome sets per cell in bone marrow cells.


Trident pelvis

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


Thalamic edema

description: Swelling within the thalamus due to the accumulation of fluid.


Restrictive behavior

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


Peritoneal mass

description: A swelling or enlargment localized to the peritoneal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Aplasia/Hypoplasia of the triceps

description: Absence or underdevelopment of the triceps muscle.


name: Delayed early-childhood social milestone development

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


Abnormal gastrointestinal transit time

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


Abnormal stool composition

description: Abnormal level of metabolite or other abnormal analyte result in a stool test.


name: Absent TSH response to thyrotrophin-releasing hormone stimulation test

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


Brachioradialis hyperreflexia

description: Increased intensity of the brachioradialis reflex.