Nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids.


Crescentic glomerulonephritis, the cause of which is unknown.


The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. [HPO:probinson]


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


The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). [ORDCID:0000-0001-5208-3432]


Uric acid stones
Uric acid nephrolithiasis

Nephrolithiasis in which the composition of the stone(s) is predominantly uric acid.


A condition in which the percentage of motile sperm is abnormally low.


Teratozoospermia
Abnormal sperm morphology
Abnormal shape of sperm

Conditions in which sperm show abnormal morphology.


A rare but severe cause of male infertility. It is characterized by the presence of 100% round headed spermatozoa and lack of acrosomes.


Enlargement of the labia
Labial hypertrophy
Enlargement of the vaginal lips


Increased length of the umbilical cord. [DDD:hfirth]


A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth.


An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. [PMID:24770509, PMID:27041288]


Inward advance of skin over the nail plate. [HPO:probinson]


A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. [PMID:18177407]


A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.


Complex pain syndrome with unknown etiology, characterized by constant or intermittent generalized vulva pain (Generalized vulvodynia) or localized burning sensations in the VESTIBULE area when pressure is applied (Vestibulodynia, or Vulvar Vestibulitis Syndrome). Typically, vulvar tissue with vulvodynia appears normal without infection or skin disease. Vulvodynia impacts negatively on a woman's quality of life as it interferes with sexual and daily activities.


Labial lentigo
Lip freckle
Ephelis of lip

Increased focal pigmentation of the vermilion of the lips. [PMID:19125428]


Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]


Elbow contractures
Fixed flexion at the elbow joint
Elbow flexion deformity
Elbow flexion contracture
Elbow contracture

A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. [HPO:probinson]


Wrist flexion contracture
Wrist flexion deformity

A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. [HPO:probinson]


Joint contractures of the thumb
Flexion deformities of thumbs
Flexion contracture of thumb

Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. [HPO:probinson]


Camptodactyly of proximal interphalangeal joint

Flexion contractures of proximal interphalangeal joints

Contractures of the proximal interphalangeal joints of the fingers

Proximal interphalangeal finger joint contractures

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. [HPO:sdoelken, PMID:19125433]


Hip contracture
Hip flexion contractures
Flexion contracture of hips
Flexion contractures of hips


Flexion deformity of the knee
Flexion contractures at both knees
Knee flexion contracture
Contractures of knees
Knee flexion deformity
Knee contractures
Flexion contractures of knees
Knee contracture
Flexion contracture of knees
Knee flexion contractures

A bent (flexed) knee joint that cannot be straightened actively or passively. [HPO:probinson]


Patellar dislocation occurring repeated times. [HPO:curators]


Shoulder dislocation occurring repeated times. [PMID:29197942, Sanford:krageth]


Protrusio acetabulae
Protrusio acetabuli

Intrapelvic bulging of the medial acetabular wall. [HPO:probinson]


Osteoarthritis of the first carpometacarpal joint


Osteoarthritis of the distal interphalangeal joint


Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)


Achilles tendon contracture
Achilles tendon contractures
Contractures of the Achilles tendon
Tight achilles tendon

A contracture of the Achilles tendon. [HPO:probinson]


A general term describing features characterized by abnormal development of bones and connective tissues. [HPO:probinson]


The presence of abnormal calcium deposition of the intervertebral disk. [HPO:probinson]


A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. [PMID:22544358]


An abnormal lack of stability of the cervical spine. [HPO:curators]


Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. [HPO:probinson]


Death of a live newborn during the first 28 days of life.


open cranial sutures
Wide cranial sutures
Broad cranial sutures
Large cranial suture
Persistent open cranial sutures

An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). [HPO:probinson]


A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. [PMID:28890861]


Versive seizure
Focal motor seizure with version

A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. [HPO:jalbers]


Cognitive aura
Focal cognitive seizure
Partial cognitive seizure

A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. [PMID:28276060, PMID:28276064]


Focal emotional seizure
Partial emotional seizure
Focal affective seizure
Emotional seizure

Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. [PMID:28276060, PMID:28276062, PMID:28276064]


Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. [HPO:probinson, PMID:572501]


A saccade that overshoots the target with the dynamic saccade. [HPO:probinson, PMID:572501]


Upward slanting of the opening between the eyelids

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. [PMID:19125427]


Antimongoloid slanted palpebral fissures

Antimongoloid slant of palpebral fissures

The palpebral fissure inclination is more than two standard deviations below the mean. [PMID:19125427]

Downward slanting of the opening between the eyelids


Short palpebral fissures
Short opening between the eyelids
Decreased height of palpebral fissure

Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. [PMID:19125427]


Increased distance between medial canthi

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. [HPO:probinson]


Drooping of the upper eyebrow below the superior orbital rim. []


Baggy eyes
Droopy eyelid skin
Extra eyelid skin
Redundant eyelid skin
Dermatochalasis

Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. [HPO:probinson]


Setting-sun eye phenomenon
Sunsetting eye

An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. [HPO:probinson, PMID:17030938]


Sunken eye
Deep set eye
Sunken eyes
Deeply set eye
Deep-set eyes

An eye that is more deeply recessed into the plane of the face than is typical. [PMID:19125427]


Reduced transparency of the stroma of cornea. [DDD:gblack]


Reduced transparency of the central posterior portion of the corneal stroma. [HPO:probinson]


Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. [HPO:probinson]


Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. [HPO:probinson]


An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. [PMID:16196117]


Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [ORCID:0000-0003-0986-4123, PMID:16196117]


Different coloured eyes
Asymmetry of iris pigmentation
Heterochromia iridis
Different colored eyes

Asymmetry between the two irides or asymmetry between different parts of one iris. [ORCID:0000-0003-0986-4123]


Loss of iris tissue (atrophy) [HPO:probinson]


Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. [HPO:sdoelken]


Presence of iris pigment epithelium on the anterior surface of the iris. []


Separation of the vitreous humor from the retina. [HPO:probinson, PMID:24376338]


Retinal artery tortuousity
Retinal arterial tortuosity
Retinal arteriolar tortuosity

The presence of an increased number of twists and turns of the retinal artery. [HPO:probinson]


An acquired dilation of the retinal artery often associated with systemic HYPERTENSION.


Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. [PMID:7952338]


Foveal reflex absent
Absent foveal reflex

Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. [HPO:probinson, PMID:27491360]


Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. [ORCID:0000-0003-0986-4123]


Scar tissue in the macula. [HPO:probinson]


A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. [HPO:probinson]


Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. [HPO:probinson]


Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. [PMID:28058540]


A skin condition consisting of both macules and papules.


Bruising susceptibility
Bruise easily
Easy bruisability
Bruisability

Appearance of skin bruises following perceived minimal contact or injury.


When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. [HPO:probinson, PMID:19125433]


Decreased length of nail. [PMID:19125433]


Ridged nails
Ridged nail
Grooved nails
Nail ridging

Straight elevated lines on the nail surface. Ridges may be vertical (running from the cuticle to the nail tip) or horizontal (running from one side of the nail to the other). Vertical ridges are usually not associated with underlying disorders and tend to become more pronounced with age. Horizontal ridges may be associated with metabolic disorders and malnutrition.


Nail that appears thin when viewed on end. [HPO:probinson, PMID:19125433]


Double row of eyelashes
Distichiasis of eyelid eyelashes
Distichiasis

Double rows of eyelashes. [HPO:probinson]


Thin hair texture
Fine hair
Thinned hair
Fine hair texture
Thin hair
Fine hair shaft

Hair that is fine or thin to the touch. [HPO:probinson]


Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. [PMID:27358492]


Excessive or pathological tendency to save and collect possessions. []


Hyperactive behavior
More active than typical
Hyperactive behaviour

Increased motor activity that is not goal directed.


Unrestrained behavior, often at odds with social norms.


Any action that results in intimidation, harm, damage, or destruction of someone or something.


Profound inattention by individuals to their own health and hygiene.


Self-inflicted harm without the intent to die.


Habitual biting of one's own body. [HPO:probinson]


Lack of facial expression
Mask-like facial appearance
Amimia
Masklike facies
Mask-like facies

A lack of facial expression often with staring eyes and a slightly open mouth. [HPO:probinson]


Chapped lips
Common cheilitis
Chapped lip

Cracking, fissuring, and peeling of the skin of the lips. []


Facial dysmorphism
Dysmorphic facial features
Dysmorphic facies
Distinctive facies
Unusual facial appearance
Abnormal morphology of the face
Unusual facies

An abnormal morphology (form) of the face or its components. [DDD:jclayton-smith]


Exercise intolerance
Decreased ability to exercise
Inability to exercise
Low exercise endurance

A reduction in the ability to perform or withstand activities that induce physical or mental exertion.


A state of increased vulnerability to stressors, following declines in function and reserves across multiple physiologic systems, characterized by MUSCLE WEAKNESS; FATIGUE; slowed motor performance; low physical activity; and unintentional weight loss.


An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. [PMID:26505062]


Uneven skull shape
Asymmetry of skull
Skull asymmetry


Broad skull
Wide cranium
Increased width of cranium
Wide skull
Increased width of skull

Increased width of the skull. [HPO:probinson]


Decreased orbital separation
Decreased interpupillary distance
Abnormally close eyes
Closely spaced eyes
Hypotelorism
Ocular hypotelorism
Decreased distance between eyes

Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). [HPO:probinson, PMID:19125427]


Deformity of the temporomandibular joint


Single palmar crease
Single transverse palmar crease
Single palmar creases
Transverse palmar crease
Single transverse palmar creases
Simian line
Simian crease
Simian creases

A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.


Severe chills accompanied by vigorous shaking.


The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties.


A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations.


Increased amplitude (strength) of the pulse. []


The sensation of an isolated cardiac contraction occurring prior to the normal or regular rhythm. (ACC-AHA)


The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. []


Isolated breast development prior to the normal age of pubertal onset in females.


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


An indication that an individual's uterus is not present.


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


Meconium stained amniotic fluid
Meconium-stained amniotic fluid

Presence of meconium into amniotic fluid.


Congenital absence of the scrotum. [HPO:probinson]


Big nose
Large nose
Prominent nose
Disproportionately large nose
Pronounced nose
Increased nasal size

Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. [PMID:19152422]


Increased width of nose
Wide nose
Increased nasal width
Increased breadth of nose
Increased nasal breadth

Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. [PMID:19152422]


Thin nose
Decreased nasal width
Decreased nasal breadth

Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. [PMID:19152422]


Cleft tip of nose
Bifid tip of nose
Cleft nasal tip

A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. [HPO:sdoelken, PMID:19152422]


Increased width of nasal tip
Wide tip of nose
Increased breadth of nasal tip
Broad, upturned nose
Broad upturned nose
Nasal tip, broad
Increased width of tip of nose
Nasal tip, wide
Broad nasal tip
Broad tip of nose

Increase in width of the nasal tip. [HPO:probinson, PMID:19152422]


Low hanging nasal tip
Drooping nasal tip
Overhanging nasal tip
Nasal tip, overhanging

Positioning of the nasal tip inferior to the nasal base. [PMID:19152422]


Thin nasal tip
Narrow tip of nose
Nasal tip, narrow
Pinched tip of nose
Narrow nasal tip
Thin tip of nose
Nasal tip, pinched

Decrease in width of the nasal tip. [PMID:19152422]


Naris, narrow
Narrow naris
Thin nostrils
Narrow nares
Narrow nostrils

Slender, slit-like aperture of the nostril. [HPO:probinson]


Large nares
Increased diameter of nostril
Naris, enlarged
Increased diameter of nares
Wide nostril
Increased width of nares
Enlarged nostril
Dilated nostril
Naris, broad
Wide nares
Enlarged naris
Broad nostril
Enlarged nares

Increased aperture of the nostril. [PMID:19152422]


A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. []


Tight lingual frenulum
Short tongue frenulum
Deficiency of lingual frenulum
Short lingual frenum
Short tongue frenum

The presence of an abnormally short lingual frenulum. [HPO:probinson]


Shorter than typical length between neck and abdomen

Reduced inferior to superior extent of the thorax. [HPO:curators]


Reduced anterior-posterior chest diameter

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. [HPO:probinson]


Clavicular hypoplasia
Hypoplastic clavicles
Short clavicles
Underdeveloped clavicles

Reduced length of the clavicles. [HPO:probinson]


Increased width (cross-sectional diameter) of the clavicles. [HPO:probinson]


Hook-shaped collarbone
Hook-shaped clavicle
Lateral clavicle hook
Handlebar clavicle

An excessive upward convexity of the lateral clavicle. [HPO:probinson, PMID:7322653]


Increased length of the clavicles. [HPO:probinson]


A developmental anomaly with absence of one or more ribs. [HPO:probinson]


Ribs with a reduced diameter. [HPO:probinson]


Increased thickness (diameter) of ribs. [HPO:probinson]


The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage. [HPO:probinson]


Radiolucent focal defect of a rib shaft. [HPO:probinson]


A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.


Asymmetrical horizontal gluteal crease
Asymmetrical gluteal sulcus
Asymmetrical gluteal crease

The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. [PMID:29701087]


A bending or abnormal curvature affecting a long bone of the arm. [HPO:probinson]


Large hands
Disproportionately large hands


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


Tapered fingertips
Tapered fingers
Tapering fingers
Tapered finger

The gradual reduction in girth of the finger from proximal to distal. [PMID:19125433]


Broad phalanges of the thumb
Broad thumbs
Wide/broad thumb
Broad thumb

Increased thumb width without increased dorso-ventral dimension. [PMID:19125433]


Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. [HPO:sdoelken]


Shortening of the legs related to developmental hypoplasia of the bones of the leg. [HPO:probinson]


A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.


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


Weakness of face
Decreased strength of facial muscles
Facial muscle weakness
Weakness of facial musculature
Decreased facial muscle strength
Facial weakness
Reduced facial muscle strength
Face weakness
Myasthenia of facial muscles

A reduction in the strength of the facial muscles.


Shoulder girdle muscle weakness
Shoulder girdle weakness
Weak shoulder muscles

The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. [HPO:curators]


Pelvic girdle muscle weakness
Pelvic girdle weakness
Hip girdle muscle weakness
Hip girdle weakness

Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. [HPO:probinson]


Muscle weakness, distal limbs, due to neuronopathy

Reduced strength of the musculature of the distal extremities. [HPO:probinson]


A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase. [ORCID:0000-0002-6670-9157, PMID:26709688, PMID:28279852]


An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. [PMID:24757457, PMID:26709689]


An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. [HPO:probinson, PMID:27770207]


Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. [PMID:27770207]


Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen. []


Instability or lack of coordination of central trunk muscles

Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. [HPO:probinson, UKT:rschuele]


Decreased mean corpuscular hemoglobin concentration

Decreased mean corpuscular Hb concentration

A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. []

Decreased mean corpuscular haemoglobin concentration


Increased mean corpuscular haemoglobin concentration

Increased mean corpuscular hemoglobin concentration

Increased mean corpuscular Hb concentration

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


An abnormal reduction below the normal number of red blood cells per volume in the circulation. []


An abnormal elevation above the normal number of red blood cells per volume in the circulation. []


A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form.


Abnormality of polymorphonuclear neutrophils

A neutrophil abnormality. [HPO:probinson, PMID:21094463, PMID:26819959]


Abnormally low level of monocytes in the blood.


A blood group indicating the presence on erythrocytes of only the A form of the H Antigen.


A blood group indicating the presence on erythrocytes of only the B form of the H Antigen.


A blood group indicating the presence on erythrocytes of both the A and B forms of the H Antigen.


A blood group indicating the absence on erythrocytes of both the A and B forms of the H Antigen.


The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. [PMID:19480920]


An abnormal orange color of urine. [PMID:18613989, PMID:29967083]


An increased lymphocyte count in the cerebrospinal fluid. [KI:phemming]


A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells). []


Low blood creatinine level
Decreased serum creatinine

An abnormally reduced amount of creatinine in the blood. [HPO:probinson]


Abnormally high glucose concentration in the cerebrospinal fluid. [HPO:nvasilevsky]


Deposition of calcium salts in the aortic valve. [HPO:probinson]


An abnormal widening of the diameter of the pulmonary artery. [HPO:probinson]


Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. [HPO:mhaendel]


Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. [HPO:mhaendel]


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


A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. [HPO:probinson]


Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK.


Doublet premature ventricular contractions

An electrocardiographic finding in which two premature ventricular complexes occur sequentially. (CDISC)


These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. [PMID:15961866]


Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. [ORCID:0000-0001-5208-3432, PMID:28904941]


A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)


An encephalocele located between bregma and lambda. [DDD:awilkie, PMID:2773494]


A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. [UToronto:chum]


A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops). [PMID:26260203]


A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


Postnatal deceleration of head circumference

Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. [HPO:probinson]

Development of small head that was not present at birth


A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. [gc:hpe]


A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. [gc:hpe]


Partial agenesis of the corpus callosum
Partial agenesis of corpus callosum
Partial corpus callosum agenesis

Partial agenesis of the corpus callosum with mental retardation, and seizures. Microcephaly, characteristic facies, hydrocephalus, and intrahemispheric cysts occur in some cases.


Dysplasia of corpus callosum
Dysgenesis of corpus callosum

Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. [HPO:probinson, PMID:21263138]


Atrophy/Degeneration of the corpus callosum

The presence of atrophy (wasting) of the corpus callosum. [HPO:sdoelken]


Missing septum pellucidum
Absent septum pellucidum
Absence of septum pellucidum
Agenesis of the septum pellucidum

Absence of the septum pellucidum. [HPO:probinson]


Four-layered lissencephaly
Classic lissencephaly
4-layered lissencephaly
Type 1 lissencephaly
Lissencephaly, type I

A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation.


Type II lissencephaly
Cobblestone lissencephaly
Type 2 lissencephaly

The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.


Malformation of the cerebral cortex due to improper migration of neurons in utero.


Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. [PMID:4058748]


Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation.


Cerebellar vermis aplasia
Agenesis of cerebellar vermis

A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.


Unilateral facial weakness which may be associated with heart defects. The face appears symmetric at rest, the mouth being pulled downward to one side when crying owing to unilateral partial weakness involving the lip depressor muscle (depressor anguli oris). Genitourinary, respiratory, and other abnormalities may be associated. Mental retardation in some cases.


Absence of some of the sacral and coccygeal bones

A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. []


Median prosencephalic arteriovenous fistula

Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. [PMID:32706613, PMID:33168212, UToronto:chum]


Meeting of the medial eyebrows in the midline. [PMID:19125427]


Absent eyebrows
Missing eyebrows
Failure of development of eyebrows


This may present as a partial or complete duplication of the eyebrows. [HPO:sdoelken]


Eyes at different heights
Misaligned eyes
Vertical orbital dystopia

The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. [HPO:probinson, PMID:7795293]


Posteriorly rotated auricles
Ear, posterior angulation, increased
Posteriorly-rotated ears
Posteriorly angulated ears
Posteriorly rotated ears
Ears rotated toward back of head
Posteriorly-angulated ears

A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). [HPO:probinson, PMID:19152421]


The pinna has fewer folds and grooves than usual. [PMID:15523657]


The presence of both a left and a right ductus arteriosus. [DDD:dbrown]


Underdevelopment of the larynx. [HPO:probinson]


Lobulated tongue
Bumpy tongue
Lingual lobules

Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. [PMID:19125428]


A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. [HPO:probinson, PMID:17667541]


Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. [HPO:probinson, PMID:11988792, PMID:637502]


Aplasia of the lower vagina
Absent lower vagina

A failure to develop of the lower part of the vagina. [HPO:probinson]


Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [HPO:probinson]


Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [HPO:probinson]


Ventral skinfold extending from penis to scrotum. [PMID:23650202]


Underdeveloped kidney on one side
Unilateral renal hypoplasia

One sided hypoplasia of the kidney. [Eurenomics:fschaefer]


Two sided hypoplasia of the kidney. [Eurenomics:fschaefer]


A unilateral form of developmental dysplasia of the kidney. [HPO:probinson]


A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation.


The presence of many cysts in the kidney. [Eurenomics:ewuehl]


An abnormal osseous union (fusion) between the ulna and the humerus. [HPO:curators]


Overgrowth of only one arm. [HPO:probinson]


Asymmetric upper limb shortening
Hemiatrophy of upper limb

Unilateral atrophy (reduction in size) of an arm. [HPO:probinson]


Carpal synostosis
Carpal fusion
Fusion of carpal bones
Carpal bone fusion
Fused carpal bones
Synostosis involving the carpal bones

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). [HPO:probinson]


Thumb-in-palm deformity
Thumb-in-palm pattern
Adducted thumbs
Adducted thumb

In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. [ORCID:0000-0002-6670-9157, PMID:16235349, PMID:19125433]


With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. [HPO:probinson, PMID:19125433]


Hypoplastic thumb
Small thumbs
Hypoplastic thumbs
Short thumb
Thumb brachydactyly
Hypoplastic/small thumb
Short thumbs

A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.


Mesoaxial polydactyly
Central polydactyly

The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. [PMID:19125433]


Postaxial hand polydactyly
Postaxial polydactyly of hands
Postaxial polydactyly of fingers
Extra pinkie finger
Postaxial polydactyly of hand
Polydactyly affecting the 5th finger
Extra pinky finger

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). [HPO:sdoelken]


Overgrowth of only one leg. [HPO:probinson]


Unilateral atrophy (reduction in size) of a leg. [HPO:probinson]


Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. [PMID:21438051, PMID:23915863, UToronto:chum]


Split-foot
Lobster-claw foot deformity
Split foot

A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. [HPO:sdoelken]


A hallux (big toe) with three phalanges in a single, proximo-distal axis. [PMID:19760621, PMID:22486404]


Cutaneous syndactyly of second and third toes

Complete cutaneous syndactyly of second and third toes


Webbed 2nd-3rd fingers
Syndactyly, 2-3 finger
2-3 finger syndactyly

Syndactyly with fusion of fingers two and three. [HPO:sdoelken]


Poorly mineralized skull
Ossification defect of skull
Hypoossification of skull
Deficient skull ossification
Poorly ossified skull
Decreased skull ossification
Poorly ossified skull bones

A reduction in the magnitude or amount of ossification of the skull. [HPO:probinson]


Alveolar cleft
Cleft primary palate
Cleft maxillary alveolus

Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. []


Cleft soft palate
Cleft muscular palate
Cleft of soft palate

Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. [HPO:curators]


Partial thickness cleft hard palate
Submucous cleft hard palate

Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. [HPO:probinson, PMID:19779505]


The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. [PMID:2503273]


A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. [PMID:2503273]


Sagittal craniosynostosis
Craniosynostosis, sagittal suture
Midline skull joint closes early
Sagittal suture synostosis
Craniosynostosis, sagittal

A kind of craniosynostosis affecting the sagittal suture. [HPO:probinson]


Absence of one half of the vertebral body in the lumbar spine. [HPO:probinson]


Absence of one half of the vertebral body in the thoracic spine. [HPO:probinson]


Absence of one half of the vertebral body in the cervical spine. []


Cervical vertebral agenesis
Cervical vertebrae agenesis

Agenesis of one or more vertebrae of the cervical vertebral column. [HPO:probinson]


An abnormality related to a defect of vertebral separation during development. [HPO:probinson, PMID:23653580, PMID:23801490]


Congenital absence of muscles
Amyoplasia

Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. [HPO:probinson, Neuromics:vstraub]


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


A type of blistering that affects the skin of the tibial region. [HPO:probinson, PMID:15265795]


Abnormal dermatoglyphics
Dermatoglyphic abnormalities

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. [HPO:probinson]


Underdevelopment of the nipple. [HPO:probinson]


A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. [HPO:curators, PMID:10695583]


A partial dislocation of the shoulder joint. [HPO:curators]


A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. []


A traumatic break in one or more of the bones in the hand.


**Description:**The source act is aggravated by the target act. (Example "chest pain" EXACBY "exercise")


One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). []


Abnormal Westergren sedimentation rate
Abnormal erythrocyte sedimentation rate

A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. [PMID:10524488]


Any deviation from the normal concentration of urea nitrogen in the blood. []

Abnormal blood urea nitrogen concentration


Elevated serum transaminases
Increased transaminases


The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. [PMID:13171348]


Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). []


Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. []


Applies to an abnormality whose distribution and appearance resembles a net or network-like structure. []


Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). []


Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [HPO:probinson]


Autosomal recessive form
Autosomal recessive

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:probinson]


Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs. []


Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. []


A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


Periungual fibroma
Koenen tumor
Parungual fibromas
Koenen's tumor
Koenen tumour
Koenen's tumour

Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). [HPO:probinson, PMID:18815399]


Autosomal dominant type
Autosomal dominant inheritance
Autosomal dominant form

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [HPO:curators]


An abnormal transposition to the left side.


Pertaining to the physical area of an object that is located to the right of its center.


To a complete degree or to the full or entire extent.


In children, urine protein greater than or equal to 40mg/m^2/h; alternatively, greater than or equal to 0.25gm/mmol creatinine or 2gm/gm creatinine obtained from a first morning specimen.


Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. [HPO:probinson]


A term that refers to the nature and/or clinical outcome of a disease (e.g., acute or chronic disease, aggressive or indolent disease, recurrent disease, etc.).


Bilateral conductive deafness
Bilateral conductive hearing impairment

A bilateral type of conductive hearing impairment. [HPO:probinson]


Bilateral sensorineural hearing impairment

A bilateral form of sensorineural hearing impairment. [HPO:probinson]


A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. [HPO:probinson]


Hypospadias with location of the urethral meatus in the perineal region. [HPO:probinson, PMID:8097257]


Bimanual synkinesia
Hand mirror movements
Mirror movements

Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. [HPO:probinson, PMID:22412265, PMID:28945198]


A type of aphasia that is characterized by impaired language comprehension. [PMID:28722980]


A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. [HPO:probinson]


A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [HPO:probinson]


A delay in the acquisition of the ability to understand the speech of others. [HPO:probinson]


Impaired speech and language development

A degree of language development that is significantly below the norm for a child of a specified age. [HPO:probinson]


Actions performed to obtain information about past illness and health status


Small scrotum
Scrotal hypoplasia
Underdeveloped scrotum
Hypoplastic scrotum

Apparently small scrotum for age. [PMID:23650202]


Increased size of nasopharyngeal adenoids

An abnormal increase in the size of nasopharyngeal adenoids. []


Hydrops fetalis, nonimmune
Hydrops fetalis, non-immune
Nonimmune hydrops fetalis
Non-immune fetal hydrops
Non-immune foetal hydrops

Fluid accumulation in multiple fetal anatomic cavities that is of non-immune origin.


A deficiency or slowing down of growth pre- and postnatally. [HPO:probinson]


An infectious disorder of newborn infants that is characterized by a systemic inflammatory response most commonly caused by bacteria.


Wide fontanelles
Persistent wide fontanel
Large fontanel
Large fontanels
Large fontanelles
Enlarged fontanelles

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


Small soft spot
Small fontanelle
Microfontanelle

A fontanelle that is small for age. [HPO:probinson, PMID:12825844]


A common condition characterized by transient partial or total paralysis of skeletal muscles and areflexia that occurs upon awakening from sleep or less often while falling asleep. Stimuli such as touch or sound may terminate the episode, which usually has a duration of seconds to minutes. This condition may occur in normal subjects or be associated with NARCOLEPSY; CATAPLEXY; and hypnagogic HALLUCINATIONS. The pathophysiology of this condition is closely related to the normal hypotonia that occur during REM sleep. (From Adv Neurol 1995;67:245-271)


An auscultated finding in which the sounds comprising the first heart sound are louder than normal. (ACC-AHA)


Lacking in initiative
Diminished motivation
Lack of initiative
Lack of motivation

A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. [HPO:probinson, PMID:16030444]


A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. [HPO:probinson]


The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.


Toes appear swollen and plump owing to inflammation of the complete toe. []


Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110). []


Pain caused by a stimulus that would not normally provoke pain.


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


A collection of blood around the kidney.


The visible presence of blood in the urine.


An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. [HPO:probinson, PMID:12928726]


Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.


A type of retinal neovascularization that affects the periphery of the retina. [HPO:probinson, PMID:22076700]


Flame-shaped retinal haemorrhage
Flame-shaped retinal hemorrhage
Linear retina heme

A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells). []


Round retinal heme
Dot-and-blot retinal haemorrhage

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


Fluid from the aqueous humor enters the corneal stroma and causes swelling.


Vagal paraganglioma
Glomus vagale tumor
Glomus vagale tumour
Vagal nerve tumours
Vagal nerve tumors

A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


Neuronal/glioneuronal neoplasm of the CNS

Neuronal/glioneuronal neoplasm of the central nervous system

A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)

Neuronal and mixed neuronal-glial tumour


The cessation of breathing in premature infants that lasts for more than 15-20 seconds.


Grade I preterm intraventricular hemorrhage

Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles occurring around the time of birth.

Grade I preterm intraventricular haemorrhage


A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.


A fracture in which the bone is splintered or crushed into a number of pieces.


A cognitive disorder characterized by an impaired ability to comprehend written and printed words or phrases despite intact vision. This condition may be developmental or acquired. Developmental dyslexia is marked by reading achievement that falls substantially below that expected given the individual's chronological age, measured intelligence, and age-appropriate education. The disturbance in reading significantly interferes with academic achievement or with activities of daily living that require reading skills. (From DSM-IV)


Labored breathing
Respiratory distress
Respiratory difficulties

A pathological increase in the effort and frequency of breathing movements.


A laboratory test indicating increased levels of amylase in the serum.


An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. [HPO:probinson]


A history of having had an abnormal echocardiogram.


ERG abnormal
Abnormal ERG
Abnormal electroretinography

Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. [HPO:probinson]


Abnormal electromyography finding
Abnormal EMG
Electromyogram abnormal
EMG abnormality

Abnormal results of investigations using electromyography (EMG). [HPO:probinson, PMID:15961866, PMID:18751841]


Abnormality on pulmonary function testing

Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. [HPO:probinson, PMID:22347750, PMID:24695507]


An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. [HPO:probinson]


Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. [PMID:14677667]


Swollen lymph nodes affecting all regions of the body

A generalized form of lymphadenopathy. [HPO:probinson]


Congenital malformation of the great arteries

Defect or defects of the morphogenesis of the aorta and pulmonary arteries. []


Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs. []


Generalized tonic-clonic seizure (without specification of onset)

A generalized tonic-clinic seizure, characterized by loss of consciousness. This type of seizure may be preceded by an aura and is frequently followed by a period of confusion and lethargy (post-ictal state).

Generalised tonic-clonic seizure (without specification of onset)


Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions.


Thickening of the epidermal layer of the skin. [HPO:probinson]


A non-metastasizing neoplasm that affects the structures of the eye (conjunctiva, cornea, uvea, retina), the lacrimal gland, and the eyelid.


An enlarged lymph node. Causes include viral and bacterial infections and cancers that affect the lymph nodes.


Abnormal movement of the globe of the eye

Abnormal motility of the globe of the eye

Eye movements that are not considered normal.


A finding of increased blood pressure; not necessarily hypertensive disorder


An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.


A condition in which body mass index falls between 25 and 29.9.


Non-cancerous GI tumours
Benign GI tract tumours
Benign gastrointestinal tract tumours
Benign gastrointestinal tract tumors
Benign GI tract tumors

A non-metastasizing neoplasm arising from any part of the digestive system.


Neurologic abnormalities
Neurological abnormality

Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.


Chronic extreme exhaustion
Chronic fatigue

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. [ORCID:0000-0001-5208-3432]


An infectious process that affects a tooth. It is characterized by localized periapical or periodontal collection of pus. It presents with pain and swelling of the gums and/or cheek.


Lung parenchymal involvement with lymphoma. [DDD:tkuijpers]


ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.


An aggressive form of chronic hepatitis involving extensive liver damage and cell injury beyond the portal tract.


Necrosis of bone due to an inadequate blood supply.


A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


Small intestinal haemorrhage
Small intestinal bleeding

Bleeding from the small intestine. [HPO:probinson]


A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the ileum.


An area of fat accumulation at the back of the neck in the form of a hump. [PMID:22301856]


A normal variant in which the testicle may move freely between the scrotum and the groin.


A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)


A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration.


Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself.


Direct Coombs positive
Coombs-positive hemolytic anaemia

A type of hemolytic anemia in which the Coombs test is positive. [HPO:probinson]


An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.


Swollen lymph nodes in center of chest
Swollen lymph nodes in centre of chest

Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. [HPO:probinson]


Enlargement of lymph nodes surrounding the trachea. [PMID:4023240]


Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. [HPO:probinson]


Increased pulmonary artery occlusion pressure

Increased pulmonary arterial wedge pressure

The measurement of the mean left arterial pressure, as measured by a catheter introduced into the distal pulmonary artery, is high.

Increased pulmonary capillary wedge pressure


An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. [HPO:probinson, PMID:24085809]


A finding of an increase in the jugular venous pressure, as measured by the height of the mean jugular venous waveform above the right atrium.


An elevated cardiac index, defined as cardiac output divided by body surface area. [ORCID:0000-0002-4095-8489, PMID:30969727]


A reduced cardiac index, defined as cardiac output divided by body surface area. [ORCID:0000-0002-4095-8489, PMID:30969727]


Electrocardiographic short PR interval
Shortened PR interval on EKG
Shortened PR interval

An electrocardiographic finding of an abnormally short PR interval. Thresholds for different age, gender, and patient populations exist. (CDISC)


An electrocardiographic finding of ST segment elevation above the baseline.


An electrocardiographic finding of ST segment depression below the baseline, often described as up sloping, down sloping or horizontal.


An electrocardiographic finding of an inversion of the T wave from the expected axis.


Incomplete maturation or aberrant formation of the male gametes. [HPO:probinson, MP:0001156]


Overly sensitive
Emotional hypersensitivity
Highly sensitive

Heightened emotional reactivity to environmental stimuli, including emotions of others. [PMID:23250816]


An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex caused by stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration).


Difficulties in coordination
Incoordination
Incoordination of limb movements


An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. [HPO:probinson]


The inability to produce speech sounds at normal volume.


Not occurring regularly or at short intervals.


Compression-induced traumatic break, and resulting collapse, of a short bone.


A general term that refers to non-neoplastic and neoplastic disorders characterized by the presence of granulomas in various anatomic sites.


The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. [PMID:16551982]


A type of rosette in which the central lumen or hub is filled with fiber-like processes. [PMID:16551982]


Intracellular aggregates of actin and actin-associated proteins within nerve cells. [HPO:probinson]


Cervical shortening
Decreased length of neck
Decreased cervical length
Short neck

Diminished length of the neck. [HPO:probinson]


Diaphragmatic weakness
Diaphragmatic paraparesis

A decrease in the strength of the diaphragm. [HPO:probinson, PMID:2509822]


A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.


A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column.


Eyelid coloboma
Cleft eyelid
Notched eyelid

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


An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. [GOC:MG, http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html]


Narrowing of the luminal diameter of one or both ureters due to intrinsic factors.


Pelviureteric junction obstruction
Ureteropelvic junction stenosis

A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis.


Hydroureter
Swelling of ureter
Wide ureter
Ureteral dilatation
Dilated ureter

Dilatation of the ureter caused by obstruction of urine flow.


A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. [PMID:11598263]


Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. []


Weakness of one side of the face
Unilateral facial weakness


Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. [ORCID:0000-0003-0986-4123]


Scarring or clouding of the cornea of the eye


A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.


An inward turning (inversion) of the margin of the upper eyelid. [ORCID:0000-0003-0986-4123]


Ectropion of lower eyelids
Lower eyelid folded out


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


A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75%.


An extremely rare iron overload disorder caused by mutation in the structural gene for transferrin (TF gene). It is characterized by hypochromic microcytic anemia and hemosiderosis.


Edema of the upper limbs
Oedema of the upper limbs

An abnormal accumulation of fluid beneath the skin of the arms. [HPO:probinson]


Abnormal EKG
Abnormal ECG
EKG abnormality

A history of having had an abnormal electrocardiogram (ECG).


Low level of blood oxygen when standing up from lying position.


Erythrocyte cylindruria
Red blood cell casts

Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. [Eurenomics:fschaefer, PMID:8856231]


Abnormal urine color
Abnormal urinary color
Abnormal urinary colour

Change in the color of the urine. Causes include medications, vitamins, urinary tract infection, liver disease, hemolysis, and kidney cancer.


Abnormal visual evoked potential
Abnormal visual-evoked potentials
Abnormality of visual evoked potentials
VEP abnormalities
Abnormal vision evoked potentials

An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. [HPO:probinson, PMID:19826847]


An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. [HPO:probinson]

Abnormal brainstem auditory-evoked potentials


A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)


Paroxysmal episodes of vertigo. [HPO:curators]


The degree or magnitude of strength, energy, or feeling.


A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. [HPO:probinson, PMID:17539799]


Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. [PMID:29770793]


Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.


An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. []


Delayed bone maturation
Delayed bone age before puberty
Delayed skeletal development
Delayed skeletal maturation
Retarded bone age
Delayed bone age

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


An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. [HPO:probinson]


An electrocardiographic finding in which a failure of impulse formation or conduction in the sinus node produces prolongation of the P-P interval or dropped P waves. The threshold for the prolongation of the P-P interval is not well defined. (CDISC)


Muscle atrophy
Amyotrophy involving the extremities
Muscular atrophy
Skeletal muscle atrophy
Muscle wasting
Amyotrophy

A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. [GOC:mtg_muscle]


A type of insomnia characterized by waking up (too) early in the morning. []


A carcinoma that arises from the duodenum. The vast majority of cases are adenocarcinomas.


Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [DDD:akelly]


Decreased circulating Tg levels
Decreased plasma Tg levels
Low blood triglyceride levels

An decrease in the level of triglycerides in the blood. [HPO:probinson]


Morphological abnormality of the vestibule of the inner ear

A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. [DDD:mbitner-glidicz]


Memory problems
Forgetfulness
Memory impairment


Bluish sclerae
Blue sclerae
Whites of eyes are a bluish-gray colour
Blue sclera
Blue outer white part of eyeball

An abnormal bluish coloration of the sclera. [HPO:probinson]


Nephromegaly
Large kidneys
Large kidney
Enlarged kidney

An abnormal increase in the size of the kidney. [HPO:probinson]


Absent kidney
Renal aplasia
Renal agenesis

A congenital abnormality characterized by the absence of one or both kidneys.


Facial swelling
Facial edema
Facial puffiness

Swelling due to an excessive accumulation of fluid in facial tissues.


An increased concentration of glycine in the urine. [HPO:gcarletti, PMID:18901181, PMID:20240447]


A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. [PMID:21590624, PMID:23213494]


Cone dysfunction
Cone dysfunction syndrome

Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. [UManchester:psergouniotis]


Focal sensory seizures
Focal sensory seizure
Sensory aura

A focal sensory seizure is a type seizure beginning with a subjective sensation. [DDD:ssisodiya, HPO:jalbers, PMID:28276060, PMID:28276062, PMID:28276064]


Genu vara
Outward bow-leggedness
Genua vara
Outward bowing at knees

An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).


A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.


A digit with two nails, with at least some soft tissue between them. [PMID:19125433]


Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer.


The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. [HPO:probinson, PMID:17027858]


Accelerated skeletal maturation
Advanced bone age

An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [HPO:curators]


The presence of more than the normal number of metacarpal bones. [HPO:curators]


Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired.


A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. [HPO:sdoelken]


A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. [HPO:probinson]


A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern. [PMID:26981113]


A round, usually thin-walled, abnormal space located in the lung.


The combination of pendular nystagmus, head nodding, and torticollis. [HPO:probinson, PMID:7499100]


An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK).


Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. [HPO:probinson, PMID:22016269, PMID:26273150]


Genu recurvatum
Knee hyperextension
Back knee

An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.


Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. [DDD:dbrown]


Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.


A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. [HPO:probinson]


A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. [HPO:sdoelken]


A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.


The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. [PMID:21461367]


Relative afferent pupillary defect
Marcus Gunn pupil

An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. [PMID:23520419, PMID:32491607]


A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. [HPO:probinson, PMID:20006038]


The presence of a dilated urinary bladder. [HPO:probinson]


An abnormally increased number of plasma cells in tissues, exudates, or blood []


Disproportionately short middle portion of limb

Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. [HPO:sdoelken]


Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). [PMID:28203370]


Deviated septum of nose
Deviated nasal septum
Crooked septum of nose

An alteration of the septum from the midline.


Increased circulating low-density lipoprotein cholesterol

Increased circulating low-density lipoprotein levels

An elevated concentration of low-density lipoprotein cholesterol in the blood. [HPO:probinson]


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


A laboratory test result which indicates increased levels of hemoglobin in a biological specimen.


A carcinoma arising from the thyroid gland. It includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and undifferentiated (anaplastic) carcinoma.


An abnormality of the biliary tree. [HPO:probinson]


An abnormality of the birth process. [HPO:probinson]


An abnormality of the lens. [HPO:probinson]


A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.


Decreased concentration of fibrinogen in the blood. [HPO:probinson]


A hereditary or acquired blood disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.


Decreased ability to sweat
Sweating, decreased
Decreased sweating


A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.


Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout.


A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).


The enteric villi are atrophic or absent. [HPO:probinson]


Abnormality of the absorption of fat from the gastrointestinal tract. [HPO:probinson]


Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis.


The presence of a rash (change of color and texture) of the perianal skin. [HPO:probinson]


Pale optic disc
Optic disk pallor
Pale optic disk
Pale optic discs
Disc pallor

A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. [HPO:probinson]


Slowness of mental processing that is associated with cerebral dysfunction.


Abnormally rapid thoughts with or without abrupt changes from one topic to another.


A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. [PMID:28613730, PMID:32706613]


The presence of multiple lung cysts. [PMID:20028879]


An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. []


Delayed intellectual development
Psychomotor delay
Retarded development
Developmental retardation
Delayed development
Retarded psychomotor development
Retarded mental development
Psychomotor development deficiency
Developmental delay, global
Developmental delay in early childhood
Delayed developmental milestones
Motor and developmental delay
Psychomotor development failure
Lack of psychomotor development
Developmental delay
Delayed cognitive development
Delayed psychomotor development
Global developmental delay
Psychomotor developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [DDD:hvfirth, HPO:sdoelken]


Softening and whitening of the skin due to excessive moisture.


Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. [PMID:12531937, PMID:24785227]


Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. [HPO:probinson]


Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. [HPO:probinson]


Preexcitation
Ventricular pre-excitation
Ventricular preexcitation

An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. [HPO:probinson]


A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. [UToronto:bgallinger]

Sacralization of the fifth lumbar vertebra


A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


Allergic reaction to eggs that is triggered by the immune system.


Incapability to ambulate. [HPO:probinson]


The presence of a fistula between the bowel and the perineum. [HPO:probinson]


Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. [HPO:probinson, PMID:23650202, PMID:33085327]


An emotional state characterized by marked to extreme elevation of mood with noticeable effect of functioning.


A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. [PMID:10471461]


Increased blood pressure during a pregnancy. [HPO:sdoelken]


A type of speech characterized by the presence of an abnormally increased nasal airflow during speech. [HPO:sdoelken]


Increased size of the placenta. [HPO:probinson]


Reduced size of the placenta. [HPO:probinson]


Narrow greater sciatic notch
Narrowed sacrosciatic notch
Narrow sacroiliac notch
Narrowed greater sciatic notch
Small sacrosciatic notch
Narrow greater sacrosciatic notches
Small sacrosciatic notches
Narrow sciatic notches

A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. [HPO:pnrobinson]


Hypoplastic labia majora
Hypoplasia of labia majora
Underdeveloped vaginal lips

Undergrowth of the outer labia. [HPO:probinson]


Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery . []


Alopecia of scalp
Pathologic hair loss from scalp
Missing scalp hair


Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy.


The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). [PMID:28599980, sanford:krageth]


Spastic weakness affecting all four limbs. [HPO:curators]


Abnormal walk
Gait disturbances
Gait disturbance
Gait difficulties
Gait abnormalities
Abnormal gait

A finding referring to walking difficulties.


Jaw joint crepitus
Temporomandibular joint noise
Temporomandibular joint sounds
Jaw joint noise
Jaw joint sounds

Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. [HPO:probinson]


A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance.


An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. [HPO:probinson]


Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. [HPO:probinson]


Increased inferior to superior extent of the thorax. [HPO:probinson]


Decreased inferosuperior length of the sternum. [HPO:probinson]


Abnormal increase in size of the upper limbs (due to an increase of the size of cells). [HPO:curators]


Abnormally reduced diameter (cross section) of the clavicles. [HPO:probinson]


Disproportionately small hand. [HPO:probinson]


An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). [HPO:probinson]


Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. [eom:5b823be1388221a1, PMID:19125433]


Thumb deformity
Abnormality of the thumbs
Abnormality of the thumb

An abnormal structure of the first digit of the hand. []


Bending or curvature of a thumb towards the ulnar side (towards the ring finger). [HPO:probinson, PMID:10955488]


Genu valgum
Knock knees
Genua valga
Genu valgus
Genu valga

An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).


Long foot
Disproportionately large feet
long feet

Increased back to front length of the foot. [UHPO:probinson]


A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. [PMID:19125433]


Barber chair phenomenon
Lhermitte's sign

A sudden, electric shock sensation that is triggered by flexion of the neck, and which travels down the spine, arms, legs, and sometimes trunk.