Hypoplasia of the ciliary body

Underdevelopment of the ciliary body.


Abnormal fundus morphology

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Any structural abnormality of the fundus of the eye.


Limited vertical extraocular movement

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


Hypermetric horizontal saccades

Overshoot of horizontal (sideways) saccadic eye movements.


Congenital stationary night blindness with abnormal fundus


Abnormal involuntary eye movements

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


Conjunctival follicles

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

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


Scintillating scotoma

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


fundus albipunctatus

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

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


amblyopia

Decreased vision that results from abnormal visual development.


Impaired horizontal smooth pursuit

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


Eye movement-induced pain

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


Retinal arteriolar tortuosity

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


retinal microaneurysm

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


Compensatory chin elevation

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


Severe constriction of peripheral visual field

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


Optic pit

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


Retinopathy of prematurity zone I

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


Alternating hypotropia

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


Central heterochromia

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


Abnormal pattern electroretinogram

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


Long eyelashes

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


Retinal crystals

Crystalline deposits in the retina.


Juvenile cataract

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


Abnormality of fundus pigmentation

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


Superior rectus muscle weakness

Decreased strength of the superior rectus muscle.


Decreased corneal reflex

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


accommodative esotropia

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


Anterior chamber inflammatory cells

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


peripheral retinal degeneration

Degeneration of the peripheral retina.


Lisch nodules

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


Triangular nuclear cataract

A nuclear cataract with a triangular form.


Focal sub-RPE deposits

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


Abnormal amplitude of pattern electroretinogram


retinal cancer

A malignant neoplasm involving the retina.


Bilateral microphthalmos

A developmental anomaly characterized by abnormal smallness of both eyes.


Ultra-low vision with retained motion projection

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


ocular albinism

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


arcus senilis

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


Abnormal timing of light-adapted flicker electroretinogram


Spontaneous conjunctival filtering bleb

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


Abnormal retinal morphology on macular OCT


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Abnormality of eye movement

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


Seesaw nystagmus

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


red-green color blindness

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


Subretinal pigment epithelium hemorrhage

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


Perifoveal ring of hyperautofluorescence


Posterior lenticonus

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


Abnormal uvea morphology

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


Cerebral visual impairment

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


Axenfeld anomaly

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


Defect of palpebral conjunctiva

An abnormality of the palpebral conjunctiva.


Abnormal paracentral response of multifocal electroretinogram


Abnormal corneal limbus morphology

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


Poor visual behavior for age

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


Foveal atrophy

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


megalocornea

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


Abnormal iris pigmentation

Abnormal pigmentation of the iris.


Foveal depigmentation

Loss of pigment in the fovea centralis.


Optic nerve dysplasia

The presence of developmental dysplasia of the optic nerve.


Abnormal timing of pattern reversal visual evoked potentials


Abnormal ocular adnexa physiology

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


Temporal optic disc pallor

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


Bitot spots of the conjunctiva

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


retinal arterial tortuosity

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


Increased cup-to-disc ratio

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


Long eyebrows

Increased length of the hairs of the eyebrows.


Abnormal timing of dark-adapted bright flash electroretinogram


Downbeat nystagmus

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


Partially accomodative esotropia

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


Foveal hypopigmentation

Decreased amount of pigmentation in the fovea centralis.


Glial remnants anterior to the optic disc

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


Drusen

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


Long upper eyelashes

Increased length of the upper eyelashes.


Lacrimal pump failure

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


Ultra-low vision

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


Peripheral opacification of the cornea

Reduced transparency of the peripheral region of the cornea.


Opacification of the corneal epithelium

Lack of transparency of the corneal epithelium.


Peripapillary exudate

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


Posterior capsular cataract

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


Retinal pigment epithelial mottling

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


Abnormal Pelli Robson contrast sensitivity chart test

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


Seborrhoeic blepharitis

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


cornea plana

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


Superior oblique muscle weakness

Decreased strength of the superior oblique muscle.


Stellate iris

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


Peripheral vitreoretinal degeneration

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


Abnormality of the vasculature of the eye


Lipemia retinalis

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


Chorioretinal dysplasia

Abnormal development of the choroid and retina.


Iridescent posterior subcapsular cataract

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


Abnormal corneal epithelium morphology

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


Medial rectus muscle overaction

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


non-arteritic anterior ischemic optic neuropathy

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


Superior rectus muscle overaction

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


Brushfield spots

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


Lipomas of eyelids

Fatty tumors on the eyelids.


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

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.


Heinz body anemia

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


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

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


Mietens syndrome

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


multicentric osteolysis, nodulosis, and arthropathy

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


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


Winchester syndrome

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


Stage IIIA Retroperitoneal Sarcoma AJCC v8

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


retroperitoneal sarcoma

A sarcoma involving a retroperitoneal space.


Adrenal Gland Leiomyosarcoma

A rare leiomyosarcoma that arises from the adrenal gland.


Retroperitoneal Malignant Peripheral Nerve Sheath Tumor

Malignant peripheral nerve sheath tumor that arises in the retroperitoneum.


Stage IIIB Retroperitoneal Sarcoma AJCC v8

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


Stage I Retroperitoneal Sarcoma AJCC v8

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


Stage IA Retroperitoneal Sarcoma AJCC v8

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


Adrenal Gland Angiosarcoma

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


Stage III Retroperitoneal Sarcoma AJCC v8

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


Retroperitoneal Rhabdomyosarcoma

A rhabdomyosarcoma arising from the retroperitoneum.


Stage II Retroperitoneal Sarcoma AJCC v8

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


Retroperitoneal Undifferentiated Pleomorphic Sarcoma

A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum.


Retroperitoneal Sarcoma by AJCC v8 Stage

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


retroperitoneal leiomyosarcoma

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


Stage IV Retroperitoneal Sarcoma AJCC v8

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


Adrenal Gland Sarcoma

A rare sarcoma that arises from the adrenal gland.


Stage IB Retroperitoneal Sarcoma AJCC v8

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


Abnormal T cell proliferation

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


Defective T cell proliferation

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


Reduced antigen-specific T cell proliferation

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


Diamond-Blackfan anemia 12

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


Bifid first metacarpal

Partial duplication of the first metacarpal bone.


Partial duplication of the proximal phalanges of the hand

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


Partial duplication of the proximal phalanx of the 3rd finger

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


Partial duplication of the proximal phalanx of the 2nd finger

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


Partial duplication of the proximal phalanx of the 5th finger

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


Partial duplication of the proximal phalanx of the 4th finger

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


mu-type opioid receptor isoform m5 (mouse)

A mu-type opioid receptor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42866-5.


FAD-linked sulfhydryl oxidase ALR isoform h2 (human)

An FAD-linked sulfhydryl oxidase ALR (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:P55789-2.


Stage IIIA Gestational Trophoblastic Tumor AJCC v7

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


diacylglycerol lipase-alpha

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


diacylglycerol lipase-alpha isoform 1 (mouse)

A diacylglycerol lipase-alpha isoform 1 that is encoded in the genome of mouse.


Decreased circulating fetuin A concentration

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


Anti-nucleolus-organizing region antibody positivity

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


Renal arteriolar lumen organized thrombi

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


Upper limb phocomelia

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


Abnormality of the menstrual cycle

An abnormality of the ovulation cycle.


Class III obesity

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


Abnormality of the distal femoral epiphysis

Any abnormality of the distal epiphysis of the femur.


Ethmocephaly

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


Dry nipple

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


Agenesis of incisor

Agenesis of incisor.


Excessively quiet voice

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


Abnormal cortical peritubular capillary lumen morphology

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


Abnormal circulating tyrosine concentration

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


Subtentorial periventricular white matter hyperdensity

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


Absence of secondary sex characteristics

No secondary sexual characteristics are present at puberty.


Symphalangism affecting the middle phalanges of the toes


Circumungual hyperkeratosis

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


Double first metacarpals

Duplication of the metacarpal I bones.


Forward facing earlobe

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


Spider hemangioma

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


Decreased sweating due to autonomic dysfunction


Supraclavicular lymphadenopathy

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


Bracket epiphysis of the distal phalanx of the 5th toe


Increased insulin like growth factor binding protein acid labile subunit concentration

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


Biceps aplasia

Absence of the biceps muscle.


Superficial dermal perivascular inflammatory infiltrate

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


Cervical ectopia cordis

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


Hypoplasia of the uterus

Underdevelopment of the uterus.


Proximal/middle symphalangism of 4th toe

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


Slow-growing nails

Nails whose growth is slower than normal.


Chronic decreased circulating IgG4

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


Irregular tarsal ossification

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


Increased intramuscular fat

An abnormal increase in the amount of intramuscular fat tissue.


Enamel agenesis

Complete or almost complete absence of enamel.


Abnormal vitamin B12 level

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


Impaired task monitoring

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


histrionic personality disorder

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


Fractured metaphysis of femur

A partial or complete breakage of the metaphysis of femur.


Joint contracture of the 5th finger

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


Impaired Ig class switch recombination

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


Large cafe-au-lait macules with irregular margins

Large hypermelanotic macules with jagged borders.


Decreased level of plasminogen

A decreased level of Plasminogen


Fibular aplasia

Absence of the fibula.


Elevated circulating cartilage oligomeric matrix protein concentration

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


Small cerebellar cortex

Reduced size of the cerebellar cortex.


Multifocal breast carcinoma

Breast carcinoma that is bilateral or otherwise multifocal.


Renal arteriole lymphocyte endoarterial hypercellularity

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


Aplasia/Hypoplasia of the 2nd finger

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


Fractured calcaneus

A partial or complete breakage of the calcaneus.


Anti-GM3 antibody positivity

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


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


Abnormal response to short acting pulmonary vasodilator

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


Limb-girdle muscle atrophy

Muscular atrophy affecting the muscles of the limb girdle.


EEG with irregular generalized spike and wave complexes

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


Nihilistic delusion

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


female orgasmic disorder

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


Papillary renal cell carcinoma type 2

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


Focal impaired awareness sexual automatism seizure

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


Folate deficiency in CSF

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


Glomerular basement membrane electron dense deposits

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


Upper limb peromelia

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


Absent epiphyses of the distal phalanges of the hand


Patchy sclerosis of the distal phalanx of the 3rd finger

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


Abnormality of the outer ear

An abnormality of the external ear.


Impaired urinary acidification

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


Unilateral vocal cord paresis

Decreased strength of the vocal fold on one side.


Abnormal limb bone morphology

Any abnormality of bones of the arms or legs.


Triangular shaped phalanges of the 3rd toe


Stippling of the epiphyses of the 4th finger

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


Increased anti-venom IgE antibody level

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


Conical mandibular incisor

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


Orthodeoxia

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


Abnormality of body height

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


Intrapulmonary sequestration

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


Increased anti-alpha-gal IgE antibody level

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


Horseshoe kidney

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


Aplasia/Hypoplasia of the tarsal bones

Absence or underdevelopment of the tarsal bones.


X-linked calvarial hyperostosis

Excessive growth of the calvaria.


Erythematous oral mucosa

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


arthrogryposis

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


Abnormal liver sonography

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


Non-obstructive azoospermia

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


Abnormality of immune system physiology

A functional abnormality of the immune system.


Cortical thickening of long bone diaphyses

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


Agenesis of mandibular premolar

Agenesis of mandibular premolar.


Congenital finger flexion contractures

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


Small earlobe

Reduced volume of the earlobe.


Periodic limb movements

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


Decreased plasma total carnitine

A decreased concentration of total carnitine in the blood.


Increased circulating troponin T concentration

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


Anti-PM-Scl antibody positivity

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


Abnormal ventriculoarterial connection

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


Duplication of the distal phalanx of the 4th finger

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


Ivory epiphyses of the 4th toe

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


Premature epimetaphyseal fusion in ulna

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


pleomorphic xanthoastrocytoma

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


Abnormal pinna morphology

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


Olfactory hallucination

Perception of smell without olfactory stimulus.


Abnormal urinary electrolyte concentration

An abnormality in the concentration of electrolytes in the urine.


Increased nuchal translucency

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


Long nasal bridge

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


Growth arrest lines

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


Abnormal iliac artery morphology

Any structural anomaly of the iliac artery.


Hypoplasia of the upper arm musculature

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


Renal tubular epithelial cell casts

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


Abnormal enteric nervous system morphology

A structural anomaly of nerves of the enteric nervous system.


Increased anti-parasite IgE antibody level

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


pilonidal sinus

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


Fixed splitting of the second heart sound

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


Curved distal phalanx of the 2nd finger

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


Abnormal glomerular parietal epithelial cell morphology

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


Decreased size of nasopharyngeal adenoids

An abnormal decrease in the size of nasopharyngeal adenoids.


Duplication of the distal phalanx of the thumb

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


congenital anomalies of kidney and urinary tract 2

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


Abnormal tricuspid valve leaflet morphology

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


Abnormal fetal skin morphology

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


Bracket epiphyses of the phalanges of the hand

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


Thick vermilion border

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


Neuroinflammation

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


Simple ear

The pinna has fewer folds and grooves than usual.


Elevated circulating C4 acylcarnitine concentration

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


Abnormality of hair pigmentation

An abnormality of hair pigmentation (color).


Chronic hemolytic anemia

An chronic form of hemolytic anemia.


Delayed eruption of teeth

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


Chronic monilial nail infection

Chronic infection of the nails by Candida species.


Carotid artery dilatation

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


Arcuate artery lumen cholesterol emboli

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


Underdeveloped tragus

Decreased posterolateral protrusion of the tragus.


Abnormal CSF lysine concentration

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


Bracket epiphysis of the proximal phalanx of the 5th finger

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


Reticular hyperpigmentation

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


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Anti-multiple nuclear dots antibody positivity

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


Hypermanganesemia

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


Clavicular sclerosis

An increase in bone density within the clavicle.


polymicrogyria

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


Punctate periventricular T2 hyperintense foci

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


Erythema migrans

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


Partial absence of specific antibody response to tetanus vaccine

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


Abnormal cerebellum morphology

Any structural abnormality of the cerebellum.


Abnormal celiac artery morphology

An anomaly of the celiac artery.


Pseudoepiphysis of the proximal phalanx of the hallux

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


Capillary malformation of the lip

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


Reversed end-diastolic umbilical artery flow

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


Palmar edema

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


Stippled calcification of humeral metaphysis


Triangular shaped proximal phalanx of the 3rd finger

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


Interlobular vein intima/media necrosis

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


Elevated myocardial native T1

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


Osteolytic defects of the phalanges of the 4th toe


Endogenous lipoid pneumonia

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


Type II pneumocyte hypertrophy

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


Lymph node necrosis

Areas of necrotic tissue within a lymph node.


incisors, lower central, absence of

Agenesis of lower secondary incisor or lower primary incisor.


Pleomorphic cholangitis

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


Cystic artery pseudoaneurysm

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


embryonal rhabdomyosarcoma

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


Reduced epidermal collagen IV protein expression


teeth present at birth

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


Decreased platelet thromboxane A2 receptor

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


Abnormality of the larynx

An abnormality of the larynx.


Abnormal anatomic location of the heart

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


Abnormal mast cell morphology

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


Decreased hemoglobin concentration

An abnormal reduction below normal hemoglobin concentration in the circulation.


Abnormal platelet alpha granule secretion

Abnormal release of alpha granule contents from platelets.


Abnormal circulating haptoglobin concentration

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


Anti-titin antibody positivity

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


Symphalangism of the thumb

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


congenital microgastria

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


Bicuspid pulmonary valve

The presence of a bicuspid pulmonary valve.


Exercise-induced muscle fatigue

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


Joint contracture of the hand

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


spermatic cord torsion

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


Diffuse swelling of cerebral white matter


Aplasia/Hypoplasia involving the musculature of the extremities


Shortening of all phalanges of fingers

Abnormal reduction in length affecting all phalanges.


Sydney crease

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


Profound hearing impairment

A profound (essentially complete) form of hearing impairment.


Decreased specific anti-polysaccharide antibody level

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


Focal aware emotional seizure

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


Lateral femoral bowing

A lateral bending or abnormal curvature of the femur.


His bundle tachycardia

His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.


Pulmonary interstitial high-resolution computed tomography abnormality

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


Symphalangism of the 4th finger

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


Cellular non-specific interstitial pneumonia

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


Shortening of all proximal phalanges of the fingers

Congenital hypoplasia of proximal phalanx of finger or all fingers.


Mucinous gastric carcinoma

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


Addictive stimulant use

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


Eruptive vellus hair cyst

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


Bullet-shaped proximal phalanx of the 5th finger

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


Moderate generalized osteoporosis

Moderate osteoporosis.


Organic aciduria

Excretion of non-amino organic acids in urine.


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


Limited mobility of proximal interphalangeal joint


Hypoplastic philtrum

Underdevelopment of the philtrum.


Renal cortical interstitial inflammation

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


Abnormality of the vasculature

An abnormality of the vasculature.


embryonal neoplasm

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


Hyperplasia of the maxilla

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


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

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


Central cyanosis

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


Abnormal geniohyoid muscle morphology

An abnormality of a geniohyoid muscle.


Sclerosis of the carpal bones

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


renal dysplasia, bilateral

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


Conjugated hyperbilirubinemia

Abnormally high level of conjugated bilirubin in the blood.


Partial absence of thumb

The absence of a phalangeal segment of a thumb.


Global brain atrophy

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


Increased circulating myelocyte count

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


Decreased circulating thyrotropin releasing hormone concentration

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


Bullet-shaped proximal phalanx of the thumb

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


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


Dumbbell-shaped femur

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


Bilobate gallbladder

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


Nail bed hemorrhage

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


Episodic paroxysmal anxiety

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


Patchy sclerosis of the proximal phalanx of the thumb

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


Ambiguous atrioventricular connection

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


dyscalculia

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


Anti-HLA-B IgG3 antibody positivity

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


Diaphyseal sclerosis of the upper limbs

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


Hyperbeta-alaninemia

Increased concentration of beta-alanine in the blood.


Stiff hip

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


Abnormal small intestinal mucosa morphology

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


Aplasia cutis congenita over posterior parietal area


Maternal seizure

A seizure during pregnancy.


Aplasia/Hypoplasia of the palmar creases

Absence or underdevelopment of the palmar creases.


Abnormal intestinal smooth muscle morphology

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


iniencephaly

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


Congenital hypoparathyroidism

Deficiency of parathyroid hormone with congenital onset.


Wide epiphyseal plates of the upper limbs


Symphalangism affecting the proximal phalanges of the hand


Elevated circulating desmosterol concentration

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


Left axis deviation

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


Complete duplication of the phalanges of the 2nd finger

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


Aplasia/Hypoplasia of the middle phalanges of the hand


Bilateral generalized polymicrogyria

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


Pulmonary artery atresia

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


Lip fissure

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


Reduced intraepidermal small nerve fiber density

Reduced number of small nerve fibers in the skin.


Decreased circulating chylomicron concentration

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


Absent thumbnail

Absence of thumb nail.


Short proximal phalanx of toe

Developmental hypoplasia (shortening) of proximal phalanx of toe.


choriocarcinoma

An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


Ectopic calcification

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


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

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


Decreased circulating hydroxyproline concentration

A decreased amount of hydroxyproline in the blood.


Facial telangiectasia

Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.


Abnormal circulating cholesterol concentration

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


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


Amyloidosis of peripheral nerves

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


Decreased circulating dehydroepiandrosterone concentration


Abnormal conus terminalis morphology

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


Abnormal adrenal morphology

Any structural anomaly of the adrenal glands.


Lymph node abscess

An inflammed lymph node that is filled with pus.


Duplicated tragus

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


Facial synkinesis

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


Cholesterol emboli within interlobular vein lumen

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


Cystic nephroma

A benign cystic neoplasm of the kidney.


Absent epiphysis of the middle phalanx of the 3rd finger

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


Curved phalanges of the 4th finger

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


Generalized abnormality of skin

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


Impaired vibration sensation at ankles

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


Panacinar emphysema

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


EEG with photoparoxysmal response grade I

Occurrence of epileptiform discharges in occipital regions during photic stimulation.


Abnormal RV/TLC ratio

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


Nasal chondritis

Inflammation of the cartilage of the nose.


Trident pelvis

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


Abnormality of neutrophil physiology

A functional abnormality of neutrophils.


Thalamic edema

Swelling within the thalamus due to the accumulation of fluid.


Restrictive behavior

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


Hypertryptophanemia

An increased amount of tryptophan in the blood.


Aplasia/Hypoplasia of the triceps

Absence or underdevelopment of the triceps muscle.


Delayed early-childhood social milestone development

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


Abnormal gastrointestinal transit time

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


Absent TSH response to thyrotrophin-releasing hormone stimulation test

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


Brachioradialis hyperreflexia

Increased intensity of the brachioradialis reflex.


Ivory epiphyses of the 3rd toe

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


Abnormal neck blood vessel morphology

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


Thickened glomerular basement membranes with electron dense deposits


Abnormal proportion of class-switched memory B cells

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


Lower thoracic kyphosis

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


Myeloschisis

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


Abnormality of the common coagulation pathway

An abnormality of blood coagulation, common pathway.


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

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


Absent cremaster reflex

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


Palate telangiectasia

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


Oral cavity telangiectasia

Presence of telangiectases in the oral cavity.


Mosaic attenuation pattern on pulmonary HRCT

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


Subluxation of the proximal interphalangeal joint of the little finger

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


Truncal titubation

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


Advanced ossification of the hand bones

Ossification of hand bones at an earlier age than normal.


Increased circulating purine concentration

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


Abnormal hand cortical bone morphology

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


Decreased circulating progesterone

An reduced concentration of progesterone in the blood.


Abnormal circulating enzyme concentration or activity

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


Anti-GT1a IgG antibody positivity

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


Polysplenia

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


Alkalemia

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


Intestinal lymphoid nodular hyperplasia

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


Chronic neutropenia

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


Macrovesicular hepatic steatosis

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


Enlarged epiphysis of the middle phalanx of the 4th toe


Abnormal finger phalanx morphology

Abnormalities affecting the phalanx of finger.


Glomerular amyloid subepithelial deposits

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


Small pituitary gland

An abnormally decreased size of the pituitary gland.


Increased proportion of HLA DR+ T cells

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


Ulnar bowing

Bending of the diaphysis (shaft) of the ulna.


Abnormal lingual artery morphology

Any structural abnormality of a lingual artery.


atransferrinemia

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


Myelin tomacula

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


Granulomatous arteriolitis of the arteriolar intima/media

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


Visceral epithelial cell hyperplasia

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


Agenesis of first permanent molar tooth

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


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

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


Abnormality of the epiphyses of the feet

Any abnormality of the epiphyses of the feet.


Metabolic ketoacidosis

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


Cervical spine instability

An abnormal lack of stability of the cervical spine.


Bacterial cell casts

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


spondyloepimetaphyseal dysplasia, Strudwick type

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


Reduced collaborative play

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


Anti-Iglon5 antibody

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


Gastrointestinal duplication

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


Abnormal morphology of the proximal phalanx of the 3rd toe

An anomaly of the proximal phalanx of third toe.


Absent metacarpal epiphyses

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


Pulmonary capillary angioectasia

Focal accumulation of dilated pulmonary capillaries.


Glomerular proteinuria

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


Long thumb

Length of the thumb is greater than normal.


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


Dagger-shaped pulp calcifications

Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

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


Metastatic angiosarcoma

An angiosarcoma that has spread to another anatomical site.


Ectopic respiratory mucosa

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


Abnormal humeral ossification

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


Abnormality of the epiphysis of the 5th metacarpal

Any abnormality of the epiphysis of the fifth metacarpal bone.


alobar holoprosencephaly

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


Metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphyses.


Segmentally thickened glomerular basement membrane

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


Glomerular parietal epithelial cell hyperplasia

Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


Colonic diverticula

The presence of multiple diverticula of the colon.


Abnormal cellular immune system morphology

An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


Visual sensory seeking

Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.


Interosseus muscle atrophy

Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.


Focal cognitive seizure with memory impairment

A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


osteopetrosis

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.


Nodular septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


Impaired proprioception

A loss or impairment of the sensation of the relative position of parts of the body and joint position.


Sclerosis of the middle phalanx of the 4th toe


Internal notch of the femoral head

A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.


Duplication of thumb phalanx

Complete or partial duplication of the phalanges 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 (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Hepatopulmonary fusion

Fusion of the liver with the lung.


Vaginal hernia

The presence of a hernia of the vagina.


regional odontodysplasia

Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

An abnormality of the hip bone.


Pancreatic hypoplasia

Hypoplasia of the pancreas.


Abnormal autonomic nervous system morphology

A structural abnormality of the autonomic nervous system.


Focal cognitive seizure with dissociation

A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


Widened cerebral subarachnoid space

An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.


Middle cerebral artery stenosis

Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.


Decreased circulating aspartic acid concentration

An reduced concentration of aspartic acid in the blood circulation.


Distal sensory impairment

An abnormal reduction in sensation in the distal portions of the extremities.


Elevated CSF fumarate concentration

An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


Lytic defects in metaphyses of the upper limbs


Renal interstitial hemosiderin

Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Narrow nasal bridge

Decreased width of the bony bridge of the nose.


Sclerosis of hallux phalanx

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


Recurrent bronchiolitis

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


Pseudoepiphysis of the proximal phalanx of the 2nd toe

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


Intercrural pterygium

A pterygium (or pterygia) in the intercrural (groin) region.


Absent facial hair

Absence of facial hair.


Bifid humerus

Clefting affecting the humerus.


Mozart ear

A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.


Abnormal muscle physiology

A functional abnormality of a skeletal muscle.


Additional crus of antihelix

Supernumerary ridge or crus of the ear arising from the antihelix.


Ovotestis

A gonad that contains both ovarian follicles and testicular tubular elements.


Abnormal circulating inhibin level

Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.


Abnormal circulating C-peptide concentration

An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.


Phantosmia

Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


Elevated circulating methylmalonylcarnitine concentration

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


Aplasia/Hypoplasia of the sacrum

Aplasia or developmental hypoplasia of the sacral bone.


Bullet-shaped distal toe phalanx

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


2,8-dihydroxyadenine crystalluria

The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.


Coarctation of the descending aortic arch

Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Podocyte myelin figures

Lamellated intracytoplasmic lipid inclusions within podocytes.


Spontaneous pain sensation

Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Abnormal bone structure

Any anomaly in the composite material or the layered arrangement of the bony skeleton.


Spastic tetraparesis

Spastic weakness affecting all four limbs.


Increased level of ribose in CSF

An increase in the level of ribose in the cerebrospinal fluid.


Symphalangism affecting the middle phalanx of the 3rd toe


Increased amyloid beta 40 peptide CSF concentration

An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


Decreased circulating androstenedione concentration

Reduced concentration of androstenedione in the blood circulation.


Alcohol-induced rhabdomyolysis

Rhabdomyolysis induced by intake of alcohol.


Small basal ganglia

Decreased size of the basal ganglia.


Peau d'orange

Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Short 4th metacarpal

Short fourth metacarpal bone.


Papillary cystadenoma of the epididymis

A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Proximal radial head dislocation

A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.


Renal arteriole medial atrophy

Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.


Generalized-onset epileptic spasm

A type of epileptic spasm of generalized onset.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).


Punding

Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.


Frontalis muscle weakness

Reduced strength of the frontalis muscle (which is located on the forehead).


seizures-intellectual disability due to hydroxylysinuria syndrome

Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Addictive sex behavior

Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.


Progressive intervertebral space narrowing

A progressive form of decreased height of the intervertebral disk.


Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.


Celiac artery dissection

A separation (dissection) of the layers of the celiac artery wall.


Increased circulating arachidonic acid concentration

An increased circulation of arachidonic acid in the blood circulation.


Urinary bladder neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


Abnormal fourth toe morphology

An anomaly of the fourth toe.


Severe expressive language delay

A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Right aortic arch with retroesophageal diverticulum of Kommerell

Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


Abnormality of the premaxilla

An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.


Distal upper limb muscle weakness

Reduced strength of the distal musculature of the arms.


Prenatal movement abnormality

An abnormality of fetal movement.


Abnormal natural killer cell physiology

A functional anomaly of the natural killer cell.


Abnormal large intestinal mucosa morphology

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


Cortical radial artery medial/intimal arteriitis

Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


Limited knee flexion/extension

A limited ability of the knee joint to perform extension and flexion.


Focal hypointensity of cerebral white matter on MRI


Elevated circulating hexacosanoic acid concentration

Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.


Focal aware emotional seizure with laughing

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


Moderate receptive language delay

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


Common atrium

Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


Bracket epiphysis of the middle phalanx of the 3rd finger

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


Enlarged epiphysis of the distal phalanx of the 3rd toe


Abnormal pulmonary fissure morphology

An abnormal form or number of the pulmonary fissures.


Deviated nasal tip

Nasal tip positioned to one side of the midline.


Bile duct proliferation

Proliferative changes of the bile ducts.


Specific learning disability

Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.


Neurodevelopmental delay

Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


Calcaneovalgus deformity

This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).


spasmodic dystonia

A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


Increased glucagon level

An elevated concentration of glucagon in the blood circulation.


colpocephaly

Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Large carpal bones

Increased size of carpal bones.


scapuloperoneal myopathy

A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.


Primary microcephaly

Head circumference below 2 standard deviations below the mean for age and gender at birth.


Abnormal acetabulum morphology

An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.


High nonceruloplasmin-bound serum copper

An increased concentration of non ceruloplasmin bound copper in the blood.


Abnormality of procerus muscle

An abnormality of a procerus.


odontogenic neoplasm

A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

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


Enlarged thumb epiphysis

Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.


Glabellar reflex

A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


Left superior vena cava draining to coronary sinus

A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically.


Complete duplication of the proximal phalanx of the 4th toe


Gastric hypertrophy

Hypertrophy of the stomach.


Increased proportion of naive B cells

An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


EEG with generalized polymorphic epileptiform discharges

Generalized epileptiform discharges of different shapes and frequencies.


hypothyroidism, congenital, nongoitrous, 2

A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Decreased circulating 12-HETE

A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


Mesangial Immune complex deposition

Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Absent lanugo

Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.


Anti-neurofascin 186 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


Anomalous origin of the left anterior descending artery from the pulmonary artery

The left anterior descending artery (LAD) branches off from the pulmonary artery.


Abnormal liver function tests during pregnancy


Duplication of the phalanges of the 2nd toe

Partial or complete duplication of a phalanx of second toe.


Increased serum estrone

An elevation above normal limits of the concentration of estrone in the circulation.


Focal impaired awareness sensory seizure with auditory features

A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.


Focal aware hyperkinetic seizure

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


Antigliadin antibody positivity

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


Intrahepatic bile duct cysts

The presence of cyst of the intrahepatic bile duct.


Abnormal ciliary motility

Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.


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

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


central nervous system primitive neuroectodermal neoplasm

A neuroectodermal tumor that involves the central nervous system.


Abnormal pulmonary valve physiology

Any functional anomaly of the pumonary valve.


Nervous tissue neoplasm

A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


Abnormality of the epiphyses of the 5th finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.


Abnormal hippocampus morphology

Any structural anomaly of the hippocampus,


Abnormal ankle morphology

A structural anomaly of the ankle.


Supernumerary spleens

The presence of two or more accessory spleens.


Abnormality of the internal auditory canal

An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.


Decreased serum estrone

A reduction below normal limits of the concentration of estrone in the circulation.


Confusional arousal

A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.