Broad neck

description: Increased side-to-side width of the neck.


Aerophagia

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

description: Repetitive air swallowing and belching and that may result in abdominal distention.


Cortical sclerosis of the iliac wing

description: Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.


name: Reduced uroporphyrinogen decarboxylase activity

description: Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal.


Excessive cleaning

description: Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.


Abnormal sternal ossification

description: Any anomaly in the formation of the bony substance of the sternum.


Curved 1st metacarpal

description: A deviation from the normal straight shape of the first metacarpal.


Abnormal midface morphology

description: An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.


Duplication of the 1st metacarpal

description: Partail or complete duplication of the first metacarpal bone.


name: Symphalangism affecting the proximal phalanx of the 5th finger

description: Fusion of the proximal phalanx of the 5th finger with another bone.


name: Abnormal CD4+CD25+ regulatory T cell proportion

description: A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


name: Abnormal mandible condylar process morphology

description: An abnormality of a mandible condylar process.


Ectopic parathyroid

description: An abnormal anatomical location of the parathyroid gland.


Radial artery aplasia

description: Congenital absence of the radial artery.


Beaked nails

description: Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.


name: Abnormal circulating lipid concentration

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


polydactyly, postaxial, type A1

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

description: A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


name: Abnormal medullary peritubular capillary lumen morphology

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


Bowed humerus

description: A bending or abnormal curvature of the humerus.


midline cervical cleft

description: Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.


name: Triangular epiphysis of the distal phalanx of the thumb

description: A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Female fetal virilization

description: Fetal masculinization of female external genitalia.


Carotid sinus syncope

description: An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.


name: Decreased circulating catecholamine concentration

description: Concentration of a catecholamine in the blood circulation below the lower limit of normal.


Disseminated cryptosporidium infection

description: Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.


Adenocarcinoma of the intestines

description: A malignant epithelial tumor with a glandular organization that originates in the intestines.


Elevated CSF DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.


Horizontal inferior border of scapula

description: A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).


Abnormality of the head

description: An abnormality of the head.


Tenesmus

description: A repeated, painful urge to defecate without excreting stool.


Tooth avulsion

description: A type of dental trauma characterized by total dislocation of the tooth from its socket.


Mild postnatal growth retardation

description: A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.


name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology

description: A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.


name: Duplication of the middle phalanx of the 5th toe

description: Partial or complete duplication of the middle phalanx of the 5th toe.


Honeycomb palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.


Short 1st metacarpal

description: A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.


Fractured larynx

description: A partial or complete breakage of the larynx.


Thoracic lordosis

description: Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve).


Dysgyria with thickened cortex

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.


Decreased waist to hip ratio

description: Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.


Anti-ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).


name: Interphalangeal joint contracture of finger

description: Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.


Focal cortical dysplasia type Ic

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.


Gottron's papules

description: Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.


Neurogenic claudication

description: Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.


name: Lower extremity peripheral arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.


name: Abnormal lower limb epiphysis morphology

description: An anomaly of one or more epiphyses of one or both legs.


Absent hippocampal commissure

description: Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.


IgG4 autoimmune antibody positivity

description: The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.


name: Cortical peritubular capillary lumen cholesterol emboli

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


name: Foam cells with lamellar inclusion bodies

description: The presence of foam cells that contain lamellar inclusion bodies.


Carotid paraganglioma

description: A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.


Iliac arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.


Right ventricular regional akinesia

description: A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.


name: Decreased post-bronchodilator forced vital capacity

description: An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.


Abnormal nasal skeleton morphology

description: An abnormality of the nasal skeleton.


name: Renal arteriole intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.


Lateral ventricular asymmetry

description: Abnormal difference in size between the left and right lateral cerebral ventricles.


name: Reduced circulating aromatic L-amino acid decarboxylase activity

description: The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal.


Mammary blocked duct

description: Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple.


Persistent head lag

description: The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.


Fragmented epiphyses

description: Fragmented appearance of the epiphyses.


Single umbilical artery

description: Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.


Absent epiphyses of the 5th finger

description: Absence of one or more epiphyses of the 5th finger.


Posterior cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.


name: Proximal phalangeal periosteal thickening


name: Focal impaired awareness epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.


solar urticaria

description: Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.


name: Abnormal circulating 18-hydroxycorticosterone level

description: Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Neck teratoma

description: A teratoma located in the neck.


name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger


Abnormal sacroiliac joint morphology

description: An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).


name: Elevated circulating 17-hydroxyprogesterone concentration

description: An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.


Nightmares

description: Frightening dreams, typically occurring during REM sleep, are normal and common in children under 10. However, they can also impact teenagers and adults.


name: Slender long bones with narrow diaphyses

description: Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.


Nasal mucosa vasculitis

description: Inflammation of blood vessels in the mucosa of the nasal cavity.


Exaggerated median tongue furrow

description: Increased depth of the median tongue furrow.


Unilateral radial aplasia

description: Missing radius bone on one side only associated with congenital failure of development.


name: Abnormality of the epiphysis of the distal phalanx of the 2nd toe


Intratubular leukocyte casts

description: Casts that contain white blood cells and are located within the tubuli of the kidney.


Abnormal leukocyte count

description: Number of leukocytes per volume of blood beyond normal limits.


name: Impaired growth-hormone response to glucagon stimulation test

description: Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.


Arcuate vein lumen cholesterol emboli

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


Proportionate short stature

description: A kind of short stature in which different regions of the body are shortened to a comparable extent.


Decreased total iron binding capacity

description: A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


Abnormal abdomen morphology

description: A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.


Dilated vestibule of the inner ear

description: Dilatation of the vestibule of the inner ear.


name: Abnormal circulating interleukin 21 concentration

description: Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation.


name: Cone-shaped epiphysis of the distal phalanx of the hallux


2-3-layered lissencephaly

description: Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.


name: Abnormally loud pulmonic component of the second heart sound


Abnormality of the mouth

description: An abnormality of the mouth.


name: Prelingual sensorineural hearing impairment

description: A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.


Abnormality of the maxillary sinus

description: An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.


Aplasia/Hypoplasia of the hallux

description: Absence or underdevelopment of the big toe.


Wilson sign

description: Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.


name: Triangular epiphysis of the 1st metacarpal


Hyaline casts

description: A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Widely spaced toes

description: An overall widening of the spaces between the digits.


congenital pseudoarthrosis of clavicle

description: Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.


name: Duplication of the proximal phalanx of the 2nd toe

description: Partial or complete duplication of proximal phalanx of second toe.


meningoencephalocele

description: A congenital abnormality in which the meninges protrude through a defect in the cranium.


Narrow nasal ridge

description: Decreased width of the nasal ridge.


Duplication of phalanx of hallux

description: Partial or complete duplication of one or more phalanx of big toe.


Renal artery aneurysm

description: Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.


Anti-GD1a IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


Supraauricular pit

description: Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.


name: Abnormal dermoepidermal hemidesmosome morphology

description: An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.


Reading-induced seizure

description: A seizure precipitated by reading.


name: Irregular epiphysis of the middle phalanx of the 4th finger

description: Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.


Elevated urinary saccharopine level

description: The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.


Renal lymphocytic tubulitis

description: Infiltration of the renal tubular epithelium by lymphocytes.


Recurrent bacterial skin infections

description: Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.


name: Reduced circulating interleukin 12 concentration

description: The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal.


name: Insulin-resistant diabetes mellitus at puberty


Reduced brain glutamate level by MRS

description: An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).


Denervation of the diaphragm

description: Interruption of the innervation of the diaphragm.


name: Abnormal circulating beta-mannosidase activity

description: Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.


name: Elevated circulating hyaluronic acid concentration

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


Transient decreased circulating IgD

description: A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.


name: Abnormal cutaneous collagen fibril morphology


Recurrent abscess formation

description: An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.


Claw toe deformity

description: Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.


Elevated urinary 4-hydroxybutyric acid

description: An increased amount of 4-hydroxybutyric acid in the urine.


Short second metatarsal

description: Short (hypoplastic) second metatarsal bone.


1-2 toe syndactyly

description: Syndactyly with fusion of toes one and two.


name: Partial left sided absence of pericardium

description: A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.


Disseminated dermatophytosis

description: A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.


Annular cutaneous lesion

description: A lesion of the skin with a ring-like distribution.


name: Anti-parotid secretory protein antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein.


name: progressive familial heart block, type 1A

description: An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.


name: Abnormal circulating fatty-acid anion concentration

description: Any deviation from the normal concentration of a fatty acid anion in the blood circulation.


Vocal cord paralysis

description: A loss of the ability to move the vocal folds.


name: Osteolytic defects of the middle phalanx of the 3rd finger

description: Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.


Decreased maximal oxygen uptake

description: Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.


Abnormal blood chloride concentration

description: An abnormality of chloride homeostasis or concentration in the body.


Flat sella turcica

description: An abnormally flat sella turcica.


Preauricular skin furrow

description: A groove of the skin immediately in front of the ear.


Elevated diastolic blood pressure

description: Abnormal increase in diastolic blood pressure.


Abnormal tubulointerstitial morphology

description: An abnormality that involves the tubules and interstitial tissue of the kidney.


Hypomelanotic macule

description: Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.


name: Focal impaired awareness motor seizure with version

description: A focal motor seizure with version characterized by impaired awareness at some point during the seizure.


Tetraparesis

description: Weakness of all four limbs.


name: Thyrotoxicosis with toxic single thyroid nodule


Clitoral hypoplasia

description: Developmental hypoplasia of the clitoris.


Bifid femur

description: A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.


Curved proximal phalanx of the 2nd toe

description: A deviation from the normal straight form of the proximal phalanx of the 2nd toe.


Fractured right clavicle

description: A partial or complete breakage of the right clavicle.


name: Abnormal morphology of the great vessels

description: A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.


Increased HDL3c concentration

description: An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Bulbar urethral stricture

description: A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.


name: Focal impaired awareness cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.


Adrenal calcification

description: Calcification within the adrenal glands.


Choroid plexus calcification

description: The presence of calcium deposition in the choroid plexus.


Arcuate artery lumen organized thrombi

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


name: Abnormal epidermis stratum granulosum morphology

description: An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.


name: Symphalangism affecting the proximal phalanx of the 2nd toe


Chvostek sign

description: A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.


Salivary gland oncocytoma

description: A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)


Anti-periplakin antibody positivity

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


Male urethral meatus stenosis

description: An abnormal narrowing of the urethral opening (meatus) of the penis.


name: Aplasia/Hypoplasia of the distal phalanx of the 4th toe


name: T-wave inversion in the right precordial leads


name: Arcuate artery endoarterial hypercellularity

description: Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.


name: Developmental stagnation at onset of seizures

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.


Pseudohyperkalemia

description: Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.


name: Aplasia/Hypoplasia involving bones of the feet


ectopia cordis

description: A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.


name: Reduced acetaldehyde dehydrogenase level

description: Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.


cervical vertebral dysplasia

description: Dysplasia of the cervical vertebral column.


Conical tooth

description: An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.


Sclerotic cranial sutures

description: An increased density in the cranial sutures following obliteration.


description: Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.


name: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal

description: Fusion of the proximal phalanx of the thumb with the 1st metacarpal.


name: Focal aware autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.


name: Triangular shaped proximal phalanx of the 2nd toe


Pulmonary oligemia

description: Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.


name: Symphalangism affecting the distal phalanges of the toes


Posterior rib cupping

description: Wide, concave posterior rib end.


Enlarged cochlear aqueduct

description: Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.


Decreased serum anion gap

description: An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).


Agenesis of maxillary lateral incisor

description: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.


name: Abnormal superior cerebellar peduncle morphology

description: An anomaly of the superior cerebellar peduncle.


Synostosis involving bones of the hand

description: An abnormal union between bones or parts of bones of the hand.


name: Increased hepatitis C virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.


description: Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.


name: Abnormality of the pulmonary vasculature


Short proximal phalanx of hallux

description: Underdevelopment (hypoplasia) of the proximal phalanx of big toe.


Increased mid-arm muscle circumference

description: Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.


name: Abnormal fetal gastrointestinal system morphology

description: An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Slow-growing hair

description: Hair whose growth is slower than normal.


Small placenta

description: Reduced size of the placenta.


Pleuritic chest pain

description: Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.


agenesis of cerebral white matter

description: Congenital defect with failure of the development of the cerebral white matter.


No social interaction

description: Lack of intentional participation in interactions with another person.


name: Right ventricular noncompaction cardiomyopathy

description: A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.


Cervical subluxation

description: A partial dislocation of one or more intervertebral joints in the cervical vertebral column.


Cavum septum pellucidum

description: If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.


Beaking of vertebral bodies

description: Anterior tongue-like protrusions of the vertebral bodies.


Abnormal 3rd metacarpal morphology

description: Any abnormality of the third metacarpal bone.


name: Focal motor seizure with dysarthria/anarthria

description: A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.


name: Osteolytic defects of the phalanges of the 2nd toe


name: EEG with generalized slow activity grade 4

description: EEG without electrical activity.


Reduced mevalonate kinase activity

description: Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.


name: Focal aware sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.


name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal


name: Abnormal CD25 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.


EEG with focal spike waves

description: EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.


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

description: Partial or complete duplication of the distal phalanx of fourth toe.


Anti-rickettsial antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors


Emotional insecurity

description: A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening.


Hypoplasia of the ventral pons

description: Underdevelopment of the ventral portion of the pons.


Woolly scalp hair

description: The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.


Abnormal nail growth

description: Nail whose growth pattern or speed deviates from normal.


name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material

description: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.


Abnormal bleeding

description: An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.


Podagra

description: Gout affecting the Metatarsophalangeal joint of big toe.


EMG: myotonic discharges

description: High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.


Abnormal T cell morphology

description: An abnormality of T cells.


Immunologic hypersensitivity

description: Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.


Abnormality of the intrinsic pathway

description: An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.


name: Childhood-onset short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.


name: Pseudoepiphysis of the distal phalanx of the 2nd finger

description: A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


bladder diverticulum

description: A pouch or sac-like protrusion in the bladder wall.


name: Increased urine phenylacetylglutamine level

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


Pseudobulbar affect

description: Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.


Maternal vascular malperfusion

description: Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.


Cloacal abnormality

description: A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.


Metacarpal synostosis

description: Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).


name: Reduced tissue medium-chain acyl-CoA dehydrogenase activity

description: Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal.


Food intolerance

description: A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.


Abnormal hyoid bone morphology

description: Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.


Gastric fluid xenobiotic

description: Presence of a xenobiotic in gastric fluid.


Renal malrotation

description: An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.


aganglionosis, total intestinal

description: A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.


Elevated hepatic iron concentration

description: An increased level of iron in liver tissues.


Abnormal CSF tryptophan concentration

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


name: Abnormal calcification of the carpal bones


name: Reduced circulating acyl-CoA oxidase activity

description: The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal.


Fractured sternal end of clavicle

description: A partial or complete breakage of the sternal end of clavicle.


name: Symphalangism affecting the distal phalanx of the 2nd toe


Chronic calcifying pancreatitis

description: A form of chronic pancreatitis that is characterized by calcification.


Decreased high-mannose N-glycan level

description: An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.


name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

description: A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).


Cerebellar Purkinje layer atrophy

description: Atrophy of the cerebellum affecting primarily the Purkinje cell layer.


Serrated intestinal polyps

description: The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.


name: Abnormality of the middle phalanx of the 2nd toe


Hypoplastic toenails

description: Underdevelopment of the toenail.


Fetal intraventricular hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.


Elevated fecal osmolality

description: Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.


Posterior fossa cyst

description: A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.


Bronchiolectasis

description: Saccular dilatation of the terminal bronchioles.


name: Renal arteriole intima/media coagulative necrosis

description: A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Cupped ribs

description: Wide, concave rib end.


Sacroiliac joint synovitis

description: Inflammation of the synovial membrane of the sacroiliac joint.


description: Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.


Darier's sign

description: A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.


name: Aplasia/Hypoplasia of the phalanges of the hallux


name: Increased glucose-6-phosphate dehydrogenase level in dried blood spot

description: An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Increased cotinine level

description: Increased concentration of cotinine in urine.


Paradoxical insomnia

description: Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep.


Perioral hyperkeratosis

description: Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.


name: Reduced hepatic glycogen debrancher enzyme activity

description: Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal.


name: Abnormal circulating unsaturated fatty acid concentration

description: A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.


Gelatinous ascites

description: A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction.


Unilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on one side.


Frontotemporal hypertrichosis

description: Excessive, increased hair growth located in the region of the forehead and temple.


Multiple unerupted teeth

description: The presence of multiple embedded tooth germs which have failed to erupt.


Short sternum

description: Decreased inferosuperior length of the sternum.


Steroetypic movements of face and head

description: Abnormal movements of face and head.


name: Pancreatic islet beta cell iron deposition

description: Accumulation of abnormally high amounts of iron in beta cells of the pancreas.


Abnormal jugular venous pressure

description: 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.


Pituitary spindle cell oncocytoma

description: A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.


Extrapyramidal muscular rigidity

description: Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


Leukocyte migration defect

description: Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.


Abnormal parietal bone morphology

description: Any abnormality of the parietal bone of the skull.


name: Impaired cortisol response to corticotropin releasing hormone stimulation test

description: Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.


Long-chain dicarboxylic aciduria

description: An increase in the level of long-chain dicarboxylic acid in the urine.


Abnormal skeletal morphology

description: An abnormality of the form, structure, or size of the skeletal system.


Sclerosis of proximal finger phalanx

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


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

description: Partial or complete duplication of the fourth proximal phalanx of hand.


Hypocystinemia

description: A decreased amount of cystine in the blood.


name: Stippling of the epiphysis of the distal phalanx of the 2nd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.


name: Decreased circulating free T4 concentration

description: A reduced concentration of free thyroxine (fT4) in the blood circulation.


Unusual fungal infection

description: An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.


Positive direct antiglobulin test

description: A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.


name: Synostosis involving bones of the lower limbs

description: An abnormal union between bones or parts of bones lower limbs.


Type II transferrin isoform profile

description: Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.


name: Complete duplication of the phalanges of the 4th finger

description: A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Thin myocardium compact layer

description: Reduced thickness of the outer, dense layer of the myocardium.


Elevated urinary homovanillic acid

description: An increased concentration of homovanillic acid in the urine.


Recurrent bronchopulmonary infections

description: An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.


Anteriorly placed anus

description: Anterior malposition of the anus.


Progressive alopecia

description: Progressive loss of hair.


Muscle arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue.


name: Abnormality of levator labii superioris alaeque nasi muscle

description: An abnormality of the levator labii superioris alaeque nasi muscle.


Neoplasm of the genitourinary tract

description: A tumor (abnormal growth of tissue) of the genitourinary system.


Ridged nail

description: Longitudinal, linear prominences in the nail plate.


name: Abnormal lateral semicircular canal morphology


Juxtaductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.


Caput medusae

description: Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.


latex allergy

description: Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.


name: Mediosternal, longitudinal streak of hypopigmentation


Extra fontanelles

description: Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.


Absent natural killer cells

description: Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.


Midline sinus of philtrum

description: Pit in the midline of the philtral groove.


bicornuate uterus

description: The presence of a bicornuate uterus.


Computed tomographic halo sign

description: CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.


name: Depletion of components of the alternative complement pathway

description: An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.


Renal artery duplication

description: The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.


name: Mildly reduced left ventricular ejection fraction

description: A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.


Methylmalonic aciduria

description: Increased concentration of methylmalonic acid in the urine.


name: Small epiphysis of the distal phalanx of the 4th toe


Focal head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset.


Loud first heart sound

description: Abnormally increased volume of the first heart sound.


Distal tibiofibular synostosis

description: Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula.


Hemifacial spasm

description: Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.


Absence of peroxisomes

description: Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.


name: Abnormal renal corticomedullary differentiation

description: An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.


Partial absence of foot

description: An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.


Thick lower lip vermilion

description: Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).


Absent external genitalia

description: Lack of external genitalia in a male or female individual.


Thickened tympanic membrane

description: The tympanic membrane (eardrum, myringa) is a thin, semitransparent, oval membrane, approximately 1 cm in diameter, that separates the external acoustic meatus from the tympanic cavity. Thickening refers to an increase of the dimension across the membrane.


Low placental alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase, placental type in the blood.


name: Increased anti-house dust mite IgE antibody level

description: Increased level of IgE antibody against house dust mites, a common allergen.


Digital constriction ring

description: A narrow segment of significantly reduced circumference of a digit.


Abnormality of the male genitalia

description: Abnormality of the male genital system.


Thoracic ectopia cordis

description: Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.


brachydactyly type B1

description: Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.


Diffuse pulmonary lymphoid hyperplasia

description: Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.


Abnormal circulating IgA level

description: An abnormal deviation from normal levels of IgA immunoglobulin in blood.


Bowing of the legs

description: A bending or abnormal curvature affecting a long bone of the leg.


name: Abnormal amyloid beta peptide CSF concentration

description: Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.


name: Abnormal circulating interleukin 22 concentration

description: Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation.


Flexion contracture of 3rd toe

description: One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.


Recurrent opportunistic infections

description: Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.


Decreased nasal nitric oxide

description: Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.


Intratubular vancomycin casts

description: Intratubular casts composed of vancomycin aggregates and uromodulin.


name: congenital non-bullous ichthyosiform erythroderma

description: A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.


Tessier number 4 facial cleft

description: The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.


name: Reduced contraction of the left ventricular apex

description: Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.


Abnormality of skull ossification

description: An abnormality of the process of ossification of the skull.


Acromelia

description: Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.


name: Decreased specific antibody response to polysaccharide vaccine

description: A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Ocular dyssynergia

description: A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.


name: Abnormal circulating long-chain fatty-acid concentration

description: Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.


Increased caudate lactate level

description: An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.


Thromboembolic stroke

description: A cerebrovascular accident (stroke) that occurs because of thromboembolism.


1-5 toe syndactyly

description: Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).


Recurrent gastroenteritis

description: Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.


name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Hypoornithinemia

description: An abnormal decrease in ornithine in the blood.


name: Reduced short-chain acyl-CoA dehydrogenase activity

description: Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids.


Umbilical hernia

description: Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.


name: Decreased circulating complement factor H concentration

description: Concentration of the complement component factor H in the blood circulation below the lower limit of normal.


name: Reduced liver carboxylesterase 1 activity

description: Activity of the enzyme carboxylesterase 1 in liver tissue below the lower limit of normal.


name: Anti-glomerular basement membrane-antibody positivity

description: The presence of autoantibodies in the serum that react to the glomerular basement membrane.


name: Bracket epiphyses of the distal phalanges of the hand

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


Intervertebral space narrowing

description: Decreased height of the intervertebral disk.


Abnormal oral morphology

description: Any structural anomaly of the mouth, which is also known as the oral cavity.


Question mark ear

description: Cleft between the helix and the lobe.


Narrow foot

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


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


Premature adrenarche

description: Onset of adrenarche at an earlier age than usual.


partial atrioventricular canal

description: Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.


name: Papillary dermis eosinophilic hyaline material

description: Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.


Abnormal sperm tail morphology

description: A structural abnormality of the sperm tail.


name: Profound sensorineural hearing impairment

description: Complete loss of hearing related to a sensorineural defect.


Elevated pulmonary artery pressure

description: An abnormally elevated blood pressure in the circulation of the pulmonary artery.


name: Left aortic arch with cervical origin of the right subclavian artery


Lacunar halos around chondrocytes

description: Concentric rings around the chondrocytes.


Absent humerus

description: Missing humerus bone associated with congenital failure of development.


Abnormal cerebral subcortex morphology

description: An abnormality of the cerebral subcortex.


Necrotizing encephalopathy

description: A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.


Grade I vesicoureteral reflux

description: Vesicoureteral reflux into the ureter only.


Abnormal lymphocyte count

description: Any abnormality in the total number of lymphocytes in the blood.


Unilateral lump kidney

description: A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.


Focal aware atonic seizure

description: A type of focal atonic seizure during which awareness is fully retained throughout.


Pseudo-chilblains on toes

description: Inflammatory chilblain-like nodules on the feet and/or toes.


Umbilical cord prolapse

description: The presence of the umbilical cord (UC) between the fetal presenting part and the cervix, regardless of the membrane status (intact or ruptured). Descent of the UC through the cervix is essential for diagnosing cord prolapse. It can be either overt (past the presenting part) or occult (alongside the presenting part).


Tibialis muscle weakness

description: Muscle weakness affecting the tibialis anterior muscle.


Anti-type VII collagen antibody

description: The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.


Abnormal LDL cholesterol concentration

description: Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.


Delayed fracture healing

description: A delay in healing of a fracture past the expected duration.


Multiple bladder diverticula

description: Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.


Pulmonary situs ambiguus

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.


name: Abnormal delayed hypersensitivity skin test

description: Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.


Hypoplastic L5 vertebral pedicle

description: Underdeveloped pedicle of the fifth lumbar vertebra.


Tall chin

description: Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.


Increased urinary taurine

description: Increased concentration of taurine in the urine.


Patchy sclerosis of 3rd finger phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.


name: Absent fourth finger distal interphalangeal crease

description: Absence of the distal interphalangeal flexion creases of the fourth finger.


Serpiginous stem of antihelix

description: Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.


Atrial situs ambiguous

description: Common atrium without defining morphologic features.


Submucous cleft of soft and hard palate

description: Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.


Low-output congestive heart failure

description: A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.


name: Abnormal communicative facial expressions

description: Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.


Vertebral wedging

description: An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.


Absent frontal sinuses

description: Aplasia of frontal sinus.


Lymphoid nodular hyperplasia

description: Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).


name: Decreased circulating nicotinamide adenine dinucleotide concentration

description: The concentration of nicotinamide adenine dinucleotide in the blood circulation is below the lower limit of normal.


name: Decreased number of small peripheral myelinated nerve fibers


Osteoporosis of vertebrae

description: Osteoporosis affecting predominantly the vertebrae.


Chronic (near) absent circulating IgG2

description: A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.


name: Weakness of long finger extensor muscles


Neurofibrillary tangles

description: Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.


name: Abnormal circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.


Long philtrum

description: Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


Hypoplasia of lymphatic vessels

description: Congenital underdevelopment of lymph vessels.


Incomplete cleft soft palate

description: Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.


Severe receptive language delay

description: A severe delay in the acquisition of the ability to understand the speech of others.


name: Abnormal tubular basement membrane morphology

description: Abnormal structure of the basement membrane of the renal tubulus.


Uterine cyst

description: A closed sack of tissue (cyst) located in the uterus.


name: Midline skin dimples over anterior/posterior fontanelles


name: Elevated aortic transvalvular pressure gradient

description: The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal.


name: Abnormal circulating glycine concentration

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


Left Isomerism

description: A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.


Anti-class I HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).


Asymmetric radial dysplasia

description: The presence of asymmetric developmental dysplasia of the radius.


Focal emotional seizure with agitation

description: Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


White lesion of the oral mucosa

description: White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.


Spinal lipoma

description: A lipoma that is localized to the spine.


Anti-BP180 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.


Patchy sclerosis of middle toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Focal aware cognitive seizure

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


name: Blebbing of apical cytoplasm of renal tubular epithelial cells

description: Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.


name: Cone-shaped epiphysis of the middle phalanx of the 4th toe


name: Abnormal proportion of double-negative alpha-beta regulatory T cell

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


Aplasia/Hypoplasia of the pancreas

description: A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.


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


Hydromyelia

description: Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.


Lower extremity hypokinesia

description: Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Abnormal pineal melatonin secretion

description: An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.


name: Pseudoepiphysis of the proximal phalanx of the 3rd finger

description: A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Intention tremor

description: A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).


name: Elevated circulating 4-hydroxyphenylacetic acid concentration

description: The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.


Maxillary lateral incisor microdontia

description: Decreased size of the maxillary permanent incisor.


Green teeth

description: A green staining of teeth.


name: Decreased circulating dehydroepiandrosterone-sulfate concentration

description: A reduced concentration of dehydroepiandrosterone-sulfate in the blood.


Decreased CSF glutamine concentration

description: Abnormally decreased levels of glutamine in cerebrospinal fluid.


Breakthrough pain

description: A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.


Polyminimyoclonus

description: Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).


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


Autoamputation of digits

description: The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.


Synesthesia

description: A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music.


Congenital posterior occipital alopecia

description: Loss of hair in the occipital region of the scalp with congenital onset.


name: Permanent junctional reciprocating tachycardia

description: An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.


Rigors

description: Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.


Short 3rd toe

description: Underdevelopment (hypoplasia) of the third toe.


Type III atherosclerotic lesion

description: Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.


name: Sclerotic radial metaphysis with longitudinal striations


name: Adrenocorticotropin deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in ACTH production.


name: Focal emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


name: Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts

description: Acitivity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts.


Flexion contracture of the hallux

description: One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.


name: Non-convulsive status epilepticus with coma

description: A type of status epilepticus without prominent motor symptoms and in the presence of coma.


Abnormal thoracic spine morphology

description: An abnormality of the thoracic vertebral column.


name: Decreased alpha-galactosidase A activity

description: Activity of the enzyme alpha-galactosidase outsidebelow the lower limit of normal.


polyhydramnios

description: An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.


name: Abnormal brainstem white matter morphology

description: An anomaly of the white matter of brainstem.


Decreased CSF isoleucine concentration

description: Abnormally decreased levels of isoleucine in cerebrospinal fluid.


name: Impaired growth-hormone response to insulin stimulation test

description: Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


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


Diminished motivation

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


name: Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity

description: Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal.


Ingrown nail

description: Excessive growth of a nail laterally into the nail fold.


Obtuse angle of mandible

description: Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.


Abnormality of the submandibular glands

description: Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.


name: Thickening of the tubular basement membrane

description: Increase in thickness of the basement membrane of the tubulus of the kidney.


Patella alta

description: Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.


vulval varices

description: A varicose disease that involves the mammalian vulva.


Increased circulating globulin level

description: An abnormally elevated concentration of globulins in the blood.


Biliary tract obstruction

description: Obstruction affecting the biliary tree.


name: Postural hypotension with compensatory tachycardia


name: Sclerosis of the distal phalanx of the 3rd finger


Parietal foramina

description: The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.


name: Abnormal pulmonary alveolar system development


Criss-cross atrioventricular valves

description: Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.


Positive blood arsenic test

description: Detection of arsenic in the blood circulation.


name: Increased number of elastic fibers in the dermis

description: An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.


Infection following live vaccination

description: An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.


name: Marked delay in eruption of permanent teeth


Increased anti-fungi IgE antibody level

description: Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.


name: Pseudoepiphysis of the distal phalanx of the hallux


Abnormal finger flexion crease

description: Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).


name: Malignant neoplasm of the central nervous system

description: A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.


Absent middle phalanx of 2nd finger

description: Absence of the middle phalanx of the index (2nd) finger.


Hemiareflexia

description: Areflexia that is limited to one side of the body.


Cervicomedullary schisis

description: Fissure within the spinal cord of the neck.


Midline hand movements

description: Hand stereotypies within the medial plane of the body.


Maceration

description: A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.


Peripheral amyelination

description: Congenital absence of the myelin sheath on a nerve.


name: Enlarged epiphysis of the distal phalanx of the 5th finger

description: Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.


Multiple digital exostoses

description: Multiple exostoses originating in the fingers and toes.


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


Hyaline membranes

description: Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.


Abnormal left atrium morphology

description: Any structural abnormality of the left atrium.


Lingual thyroid

description: An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.


Foot joint contracture

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


Short telomere length

description: An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.


name: Irregular epiphysis of the middle phalanx of the 3rd toe


name: Elevated circulating aspartate aminotransferase concentration

description: The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.


Focal hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face.


Reduced forced vital capacity

description: An abnormal reduction in the amount of air a person can expel following maximal inspiration.


name: Enlarged epiphysis of the middle phalanx of the 2nd toe


Persistence of primary teeth

description: Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.


White forelock

description: A triangular depigmented region of white hairs located in the anterior midline of the scalp.


Frontoethmoidal meningocele

description: A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.


Pseudoepiphysis of the 2nd finger

description: A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Pigment gallstones

description: Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.


Choanal stenosis

description: Abnormal narrowing of the choana (the posterior nasal aperture).


Abnormal glycosylation

description: An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.


follicular infundibulum tumor

description: A tumor involving the follicular infundibulum.


Aplasia/Hypoplasia of the inner ear

description: Aplasia or developmental hypoplasia of the inner ear.


name: Delayed upper limb epiphyseal ossification

description: A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.


Fatigable weakness of skeletal muscles

description: A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Stiff skin

description: An induration (hardening) of the skin


Abnormal hair pattern

description: An abnormality of the distribution of hair growth.


Reduced fetal femur/foot length ratio

description: This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.


CNS foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.


Pulmonary bulla

description: Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.


name: Premature epimetaphyseal fusion in radius

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


name: Elevated CSF chitotriosidase 1 concentration

description: Increased concentration of chitotriosidase 1 in cerebrospinal fluid.


Excess residual spermatozoal cytoplasm

description: Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.


name: Elevated bronchoalveolar lavage fluid neutrophil proportion

description: Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.


Intracranial calcification

description: Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.


name: Reduced proportion of CD4+ effector memory T cells

description: An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


name: Complete duplication of the distal phalanx of the 4th toe

description: Complete duplication of the distal phalanx of fourth toe.


Thalamic arteriovenous malformation

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


Splayed fingers

description: Divergence of digits along the A/P axis (in the plane of the palm).


Delayed myelination

description: Delayed myelination.


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


Elevated urine 3-hydroxyglutaric level

description: The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Interhypothalamic adhesion

description: An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.


Abnormal serum estriol

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


name: Unilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in one hemisphere.


Enlarged labia minora

description: Increase in size of the folds of skin between the outer labia.


Umbilical cord knot

description: An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.


name: Bullet-shaped distal phalanx of the 3rd toe

description: An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Motor impersistence

description: The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.


name: Cutaneous atresia of the external auditory canal


Abnormal cranial nerve morphology

description: Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


Blistering by histological location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.


Craniofacial cleft

description: Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw.


Abnormality of vitamin K metabolism

description: Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.


Elevated CSF dopamine concentration

description: Increased concentration of dopamine in the cerebrospinal fluid (CSF).


Increased facial adipose tissue

description: An increased amount of subcutaneous fat tissue in the face.


Sulfocysteinuria

description: A increased concentration of sulfocysteine in the urine.


name: Duplication of the distal phalanx of the 3rd toe

description: Partial or complete duplication of distal phalanx of third toe.