Lower limb pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.


Abnormal CSF amyloid concentration

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

Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).


Perivascular small intestinal hyaline deposition

Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.


Periglomerular fibrosis

Circumferential fibrosis in the interstitium surrounding Bowman's capsule


Closed comedo

A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.


Abnormal circulating GABA concentration

Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.


Pulmonary artery intimal thickening

Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.


Quadriceps aplasia

Absence of the quadriceps muscle.


Decreased circulating antidiuretic hormone concentration

Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation.


Renal tubular cyst

Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.


Abnormal skin morphology

Any morphological abnormality of the skin.


Anti-GABA(B)R antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.


Reduced terminal:vellus ratio

A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.


Sadness

Intense or excessive feelings of unhappiness are often characterized by feeling down, low, unhappy, or sorrowful.


glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

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

A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.


Aplasia/hypoplasia of the femur

Absence or underdevelopment of the femur.


Fragmentation of the epiphysis of the 1st metacarpal

Epiphysis of the 1st metacarpal having multiple bony fragments.


Abnormal renal cortex morphology

An abnormality of the cortex of the kidney.


Intramuscular lipoma

A lipoma that is located within a muscle.


Somatic hallucination

A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.


Monomorphic ventricular tachycardia

A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).


Depletion of mitochondrial DNA in liver

An abnormal reduction in the number of mitochondria in hepatocytes.


Melanonychia

Brown or black discoloration of the nails.


Oral mucosa nodule

A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.


Hand paresthesia

Tingling (often refered to as a pins and needles feeling) and numbness in the hand.


Arcuate artery endoarterial leukocyte hypercellularity

Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


Abnormality of mentalis muscle

An abnormality of a mentalis muscle.


Underdeveloped superior crus of antihelix

Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.


P mitrale

A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.


atrioventricular dissociation

Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.


Abnormal posterior circulating artery morphology

Any structural anomaly of the posterior circulating artery (PCOM).


Thin glomerular basement membrane

Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.


Symphalangism of middle phalanx of 2nd finger

Fusion of the middle phalanx of the 2nd finger with another bone.


brachydactyly type E1

Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.


Glomerular basement membranes powdery deposit

Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.


Decreased DLCO

Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.


Fetal ultrasound soft marker

An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.


Cementum hypoplasia

The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.


Amelia involving the lower limbs

Amelia of one or both legs.


Upper limb dysmetria

A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.


Accessory carpal bones

The presence of more than the normal number of carpal bones.


Sural nerve atrophy

Wasting of the sural nerve, a sensory nerve in the calf region of the leg.


Septic pulmonary embolism

Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.


46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.


Nevus spilus

A tan, regularly bordered patch with darker macules within the lesion.


Asymmetry of the maxilla

Asymmetry between the left and right sides of the maxilla.


Erythroid hyperplasia

Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Renal diverticulum

Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.


Type 2 congenital pulmonary airway malformation

A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).


Abnormal globus pallidus morphology

An abnormality of the globus pallidus.


Fractured fused metatarsal bones 2-4

A partial or complete breakage of the fused metatarsal bones 2-4.


Fractured middle phalanx of manual digit 2

A partial or complete breakage of the middle phalanx of manual digit 2.


Partial absence of toe

The absence of a phalangeal segment of a toe or hallux.


Biceps hyperreflexia

Increased intensity of the biceps reflex.


High pitched voice

An abnormal increase in the pitch (frequency) of the voice.


Abnormal pelvic girdle bone morphology

An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.


Skin dimple over apex of long bone angulation


Abnormality of the testis size

An anomaly of the size of the testicle (the male gonad).


Anti-SUMO-activating enzyme subunit 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2.


Abnormal rete ridge morphology

Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.


Oral lichenoid lesion

Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.


Generalized reticulate brown pigmentation


Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Abnormal knee physiology

A functional anomaly of the knee joint.


Reduced circulating matrix metalloproteinase 2 concentration

Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.


Focal necrotic thalamus lesion

A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus.


Microtia, third degree

Presence of some auricular structures, but none of these structures conform to recognized ear components.


Myoglobin casts

A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


Cervical spinal cord atrophy

Atrophy of the cervical segment of the spinal cord.


Cold paresis

Increased muscle weakness upon exposure to cold temperatures.


Delayed ability to roll over

Delayed ahcievement of the ability to roll front to back and back to front.


EEG with persistent abnormal rhythmic activity


Focal impaired awareness emotional seizure

A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.


Coronary sinus enlargement

Abnormal increase in size of the coronary sinus.


Increased CSF/serum albumin ratio

An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Rhabdoid tumor of the ovary

A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.


Reduced use of language for social purposes


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

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


Peroneal muscle weakness

Weakness of the peroneal muscles.


Deep-set nails

Deeply placed nails.


Renal amyloidosis

A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).


Deep plantar creases

The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.


Skin vesicle

A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.


Aplasia involving bones of the lower limbs


hearing loss, mixed conductive-sensorineural

Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.


Decreased circulating cortisol level

Abnormally reduced concentration of cortisol in the blood.


Reduced CSF lactate

Decreased concentration of lactate in the cerebrospinal fluid.


Psoriasiform lesion

A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.


Frontotemporal cerebral atrophy

Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.


Moderate intrauterine growth retardation

Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.


Abnormal umbilical cord blood vessel morphology


Abnormal lymph node morphology

A structural lymph node abnormality.


Small epiphysis of the distal phalanx of the 2nd toe


Abnormal renal tubule morphology

An abnormality of the renal tubules.


Increased alveolar volume

An abnormal elevation in alveolar volume.


Malposition of the stomach

Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.


Chin with vertical crease

Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.


Thickened glomerular basement membrane

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


Medial degeneration

Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.


Decreased circulating luteinizing hormone level

A reduction in the circulating level of luteinizing hormone (LH).


cerebrospinal fluid rhinorrhea

Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)


Small intestinal dysmotility

Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Megaduodenum

Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.


Small epiphysis of the proximal phalanx of the 2nd finger


Sputum eosinophilia

An increased proportion of eosinophils in sputum in the differentiated cell count.


Thoracolumbar kyphosis

Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.


Sclerosis of the distal phalanx of the 5th toe


Addictive nitrous oxide use

Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.


Neonatal bilateral clonic seizure

Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.


Contracture of the distal interphalangeal joint of the fingers

Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.


Elevated circulating calcitonin concentration

Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.


Duplication of the proximal phalanx of the 3rd finger

Partial or complete duplication of the third proximal phalanx of hand.


Prominent S wave in lead I

Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.


Forward slanting upper incisors

The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.


Abnormal branching pattern of the aortic arch

A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.


Duplication of the middle phalanx of the 3rd finger

Partial or complete duplication of the middle phalanx of middle finger.


Reduced lamina lucida anchoring filament density

Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.


Aplasia of the proximal phalanx of the 5th finger

Absence of the proximal phalanx of the little (5th) finger.


Triangular shaped 1st metacarpal

This term applies to a triangular shaped 1st metacarpal.


Ulnar deviation of the hand

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).


Abnormal urinary 1-methylhistidine concentration

Abnormal concentration of 1-methylhistidine in the urine.


Dentinogenesis imperfecta of primary and permanent teeth

Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.


Hypoplasia of the tooth germ

Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.


Proprioceptive hallucination

A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.


Sclerosis of distal finger phalanx

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


Abnormal circulating corticosterone level

An abnormality of the concentration of corticosterone in the blood.


Increased circulating brain natriuretic peptide concentration

An increased concentration of brain natriuretic peptide in the blood circulation.


Atrial cardiomyopathy

Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.


Parietal cortical atrophy

Atrophy of the parietal cortex.


Mongolian blue spot

Congenital deep dermal melanosis in the sacral area.


Multifocal hyperintensity of cerebral white matter on MRI

An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.


Limited knee flexion

Reduced ability to flex (bend) the knee joint.


3-4 finger cutaneous syndactyly

A soft tissue continuity in the A/P axis between fingers 3 and 4.


Sensory ataxia

Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.


Episodic tachypnea

Episodes of very rapid breathing.


Proximal radio-ulnar synostosis

An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.


Perianal dermatitis

The presence of a rash (change of color and texture) of the perianal skin.


Abnormal urinary 3-methylhistidine level

Abnormal amount of 3-methylhistidine in the urine.


focal dystonia

A dystonia that is localized to a specific part of the body.


Collectionism

Excessive or pathological tendency to save and collect possessions.


Progressive spinal muscular atrophy

Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.


Dicarboxylic aciduria

An increased concentration of dicarboxylic acid in the urine.


Rope sign

The presence of linear erythematous palpable cords, often on the lateral trunk.


Schilder disease

Schilder's disease is a progressive demyelinating disorder of the central nervous system.


Mediastinal cystic lymphangioma

A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.


Epiphyseal stippling of the first metacarpal

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.


Absent epiphysis of the distal phalanx of the hallux

Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.


Warm reactive autoantibody positivity

Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.


Nocturnal hypoxemia

Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.


Increased total bilirubin

Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.


Gallbladder mass

An abnormal lesion or swelling seen on gallbladder imaging.


lingual-facial-buccal dyskinesia

Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.


Pulmonary fat embolism

The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.


Bullet-shaped thumb phalanx

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


Small intestinal bacterial overgrowth

An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.


Abnormality of the phalanges of the 4th toe


Psychomotor deterioration

Loss of previously present mental and motor abilities.


Increased circulating antimullerian hormone concentration

An elevation above the normal range of the antimullerian hormone in the circulation.


Abnormal circulating free T3 concentration

A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.


Cortical diaphyseal irregularity of the upper limbs


Increased proportion of naive T cells

An abnormally increased proportion of naive T cells relative to the total number of T cells.


Abnormal oxygen level in cord blood

An abnormal level of blood oxygen in the cord blood.


congenitally corrected transposition of the great arteries

Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.


Short neck

Diminished length of the neck.


Bilateral vocal cord paralysis

A loss of the ability to move the vocal fold on both sides.


Expiratory crackles

Crackles that occur during expiration.


Delusional perception

A true perception, to which a patient attributes a false meaning, ranges from experiencing some vague meaning to clear, delusional observations, and expresses delusions of reference.


Focal T2 hyperintense basal ganglia lesion

A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.


Cortical peritubular capillary lumen organized thrombi

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


Nocturnal seizures

Seizures that occur while the affected individual is sleeping.


Cervical platyspondyly

A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.


Abnormal anus morphology

A structural anomaly of the anus.


Internal carotid artery dissection

A separation (dissection) of the layers of the internal carotid artery wall.


Excessive skin wrinkling on dorsum of hands and fingers


Decreased circulating mannose-binding protein concentration

Concentration of mannose-binding protein in the blood circulation below the lower limit of normal.


Absent epiphysis of the middle phalanx of the 5th finger

Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.


Mandibular osteolysis

Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.


Sclerosis of 2nd toe phalanx

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


Invasive fungal infection

Fungal infection characterized by invasion of host tissues.


Presacral ganglioneuroma

A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.


Anti-desmoplakin II antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II.


Increased glucose-6-phosphate dehydrogenase level in blood

An increase in the level of glucose-6-phosphate dehydrogenase in the blood.


Absent pituitary stalk

A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Abnormality of dorsoventral patterning of the limbs

An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.


Bilateral superior vena cava with no bridging vein


Focal cognitive seizure with left-right confusion

A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.


Absent epiphysis of the distal phalanx of the 3rd toe


Abnormal nasal base norphology

An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.


Perianal erythema

Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.


Enlarged pituitary gland

An abnormally increased size of the pituitary gland.


Abnormal cardiac output

A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.


Elevated circulating stearoylcarnitine concentration

Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.


Impaired collagen-related peptide-induced platelet aggregation

Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.


Podocyte cytoskeletal condensation

Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.


Gastric duplication

Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.


Muscular ventricular septal aneurysm

Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Absent epiphysis of the proximal phalanx of the 4th finger

Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.


Cognitive epileptic aura

A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.


Elevated circulating methylglutarylcarnitine concentration

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


Macroscopic hematuria

Hematuria that is visible upon inspection of the urine.


Pancreas divisum

A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.


Medial/intimal arcuate venulitis

Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.


Wide humeral diaphysis

Increased width of the humeral diaphysis.


Cleft at the superior portion of the pinna


Elevated circulating lyso-globotriaosylsphingosine concentration

An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.


Thoracic hemivertebrae

Absence of one half of the vertebral body in the thoracic spine.


Pancolitis

Inflammation of the entire colon.


Decreased circulating follicle stimulating hormone concentration

A reduction of the circulating level of follicle-stimulating hormone (FSH).


Short phalanx of the 3rd toe

Developmental hypoplasia of the phalanx of third toe.


Abnormal mucociliary clearance

An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.


Intermittent jaundice

Jaundice that is sometimes present, sometimes not.


Absent stapes

Aplasia of the stapes.


Non-pruritic urticaria

Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.


Ventricular bigeminy

An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.


Periportal emperipolesis

The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.


Pseudoepiphyses of the 4th finger

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


Rete ridge elongation

Increased length of the rete rdiges of the epidermis.


Small cerebral cortex

Reduced size of the cerebral cortex.


Short tubular bones of the hand

Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.


nodular goiter

Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.


Bifid antitragus

Double rather than single peak of the antitragus.


Mucinous cystic neoplasm of the pancreas

Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.


Argyrophilic inclusion bodies

Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.


Cerebellopontine angle arachnoid cyst

An arachnoid cyst located at the margin of the cerebellum and pons.


Aciduria

Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


Tracheal papilloma

A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.


Abnormality of anterior ethmoidal artery

An abnormality of an anterior ethmoidal artery.


Renal interstitial non-necrotizing granulomas

Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.


Partial duplication of the distal phalanx of the 5th toe

Partial duplication of the distal phalanx of little toe.


Exudative pleural effusion

A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


Elevated circulating luteinizing hormone level

An elevated concentration of luteinizing hormone in the blood.


Abnormal small intestine morphology

A structural abnormality of the small intestine.


Aplasia of the 4th metacarpal

Absence of the fourth long bone of the hand.


Abnormal chylomicron concentration

Any deviation from the normal circulating concentration of chylomicrons.


Abnormal vaginal physiology

Any anomaly of vagina function.


Glomerular hyaline subepithelial deposits

A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Abnormal circulating follicle-stimulating hormone concentration

An anomaly of the circulating level of follicle-stimulating hormone (FSH).


Long nose

Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.


Ascending aortic dissection

A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Podocyte infolding

Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.


Abnormal T cell activation

Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


Sigmoid kidney

A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.


Abnormality of female external genitalia

An abnormality of the female external genitalia.


Hemihypertrophy of upper limb

Overgrowth of only one arm.


Myoclonic status epilepticus without coma

A type of myoclonic status epilepticus in the absence of coma.


Absence of Lutheran antigen on erythrocytes

Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.


C2-C3 subluxation

A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.


Delayed thelarche

Later than normal development of the breasts.


Severe temper tantrums

Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.


Limb muscle weakness

Reduced strength and weakness of the muscles of the arms and legs.


Ascending aorta hypoplasia

Significant luminal narrowing of a long segment of or the entire ascending aorta.


Anti-sp100 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.


Viral infection-induced rhabdomyolysis

Rhabdomyolysis induced by a viral infection.


Hypertrichotic hyperpigmented patch

A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.


congenital partial pulmonary venous return anomaly

Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.


Asymmetric bilateral cleft lip

Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).


Abnormal CSF pyruvate family amino acid concentration

Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.


Philtrum with midline raphe

Narrow ridge in the midline of the philtral groove.


Anti-carbonic anhydrase VI antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI.


Increased circulating gonadotropin level

Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.


Enlarged epiphysis of the middle phalanx of the 3rd finger

Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.


Short distal phalanx of the 4th toe

Developmental hypoplasia of the distal phalanx of fourth toe.


Fragmentation of the epiphyses of the 3rd finger

Fragmented appearance of the epiphyses of the 3rd finger.


Abnormal cheek morphology

An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface


Episodic generalized hypotonia

The occurrence of repeated episodes of generalized muscular hypotonia.


kidney cortex necrosis

Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.


Increased circulating aspartic acid concentration

An increased concentration of aspartic acid in the blood circulation.


Abnormality of the middle phalanx of the 3rd toe


Aortic elastic fiber fragmentation

Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.


Coarctation of abdominal aorta

Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.


Hypoglycorrhachia

Abnormally low glucose concentration in the cerebrospinal fluid.


Abnormal fetal long-bone echogenicity

Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.


Increased circulating IgG4 level

An abnormally increased concentration of the IgG4 subtype in the blood circulation.


Cone-shaped epiphysis of the 1st metacarpal

A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.


peritoneal mesothelioma

A benign or malignant mesothelial neoplasm that arises from the peritoneum.


Hip subluxation

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


Arterial calcification

Pathological deposition of calcium salts in one or more arteries.


Keratinocyte vacuolization

Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.


Fragmentation of the epiphyses of the toes


Agenesis of permanent maxillary central incisor

Agenesis of upper secondary incisor.


Diaminoaciduria

An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).


Tetralogy of Fallot with atrioventricular canal defect


Premature loss of teeth

Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.


Long segment coarctation of the aorta

Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.


EEG with localized low amplitude activity

An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Arcuate vein intima/medial amyloidosis

Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Decreased helper T cell proportion

Reduced proportion of helper T cells relative to the total number of T cells.


Neurofibroma by anatomical location

Neurofibroma categorized according to the anatomical site of origin.


Abnormal circulating asparagine concentration

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


Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal

Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.


Moderate proteinuria

Moderately increased levels of protein in the urine (500-1000 mg per day in adults).


Sawtooth acanthosis

A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.


Upper-limb joint contracture

A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Enlarged epiphysis of the proximal phalanx of the 2nd finger


Demyelinating motor neuropathy

Demyelination of peripheral motor nerves.


Shortened PR interval

Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.


Dense calvaria

An abnormal increase of density of the bones making up the calvaria.


Abnormality of male external genitalia

An abnormality of male external genitalia.


Achilles tendon calcification

Ectopic deposition of calcium salts in the Achilles tendon.


Impaired ability to shift attention

A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.


Hypoplastic anterior limbs of the internal capsule

Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.


Fragmentation of the epiphyses of the middle phalanges of the hand

Fragmented appearance of the epiphyses of the middle phalanges of the hand.


Symphalangism affecting the phalanges of the 4th toe


Abnormal vasa vasorum morphology

A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.


Renal interstitial plasma cell infiltration

Increased numbers of plasma cells in the interstitial tissues of the kidney.


thumb deformity

An abnormal structure of the first digit of the hand.


Symphalangism affecting the phalanges of the toes


cardiac rhabdomyoma

A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.


Elevated CSF amyloid concentration

Increased concentration of amyloid in the cerebrospinal fluid (CSF).


Distal femoral metaphyseal abnormality

An anomaly of the metaphysis of the distal femur (close to the knee).


Transient decreased circulating IgE

A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Cerebral calcification

The presence of calcium deposition within brain structures.


Hypoplastic anterior commissure

Underdevelopment of the anterior commissure.


Pulmonary situs ambiguus with bilateral morphologic left lungs

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.


mixed neuronal-glial tumor

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


Pruritis on breast

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.


Increased proportion of naive CD4 T cells


Duplication of the middle phalanx of hand

This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Abnormal circulating serine concentration

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


hydroxyprolinemia

An increased concentration of hydroxyproline in the blood.


Arcuate intimal/medial granulomatous venulitis

A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Abnormal cellular physiology

An abnormality in a cellular process.


Startle-induced seizure

Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.


Renal duplication

A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.


Intercostal muscle weakness

Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.


Abnormal pyramidal tract morphology

Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.


Broad jaw

Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).


Abnormal eosinophil morphology

An abnormal count or structure of eosinophils.


Osteolytic defect of the proximal phalanx of the thumb

Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.


cerebral cortical dysplasia

Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.


Exercise induced anaphylaxis

Anaphylaxis after physical activity.


Obliterative abnormality of the renal glomerulus


Anisopoikilocytosis

A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.


Hypotaurinemia

A decreased amount of taurine in the blood.


Calcium carbonate crystalluria

The presence of calcium carbonate crystals in the urine.


High anterior hairline

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.


Chronic hepatitis due to cryptosporidium infection

Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.


Anti-GT1a antibody positivity

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


Wrist flexion contracture

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


Uterine arteriovenous malformation

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


EEG with intermittent slow activity

Non-continuous diffuse slowing of electroencephalographic patterns.


factor XIII, b subunit, deficiency of

Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Abnormal branching pattern of left aortic arch

A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).


Abnormality of angular artery

An abnormality of the angular artery, the terminal branch of the facial artery.


Low pulse pressure

Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Abnormality of pineal physiology

A functional abnormality of the pineal gland.


Facial midline hemangioma

Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.


Fetal cerebellar vermis hemorrhage

A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.


White papule

A papule with white color.


Religious delusion

Delusions are characterized by increased conviction and pervasiveness, permeating the individual's entire experience to a greater extent.


Perihilar glomerular hyalinosis

Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.


lissencephaly due to LIS1 mutation

Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


Sclerosis of the proximal phalanx of the 5th toe


Motor seizure

A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Punctate palmar hyperkeratosis

Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.


Aplasia/hypoplasia affecting bones of the axial skeleton

Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.


Fordyce angiokeratoma

A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis.


Ectopic thyroid

Mislocalised thyroid gland.


Enlarged epiphysis of the distal phalanx of the 4th toe


Decreased transferrin saturation

A below normal level of saturation of serum transferrin with iron.


alpha-heavy chain disease

Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.


Abnormal cellular composition of bronchoalveolar fluid

Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.


Duplication of middle phalanx of toe

Partial or complete duplication of a middle phalanx of toe.


Clusters of axonal regeneration

Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.


Joubert syndrome

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.


Skin-picking

Repetitive and compulsive picking of skin which results in tissue damage.


Anti-laminin 332 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.


Pulmonary aterial intimal fibrosis

Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.


Weakness of facial musculature

Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Membranous ventricular septal aneurysm

Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


tetra-amelia

Amelia of all four limbs.


diffuse palmoplantar keratoderma

Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.


Recurrent infantile hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.


Prolonged euglobulin clot lysis time

Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


Cortical radial artery medial/intimal granulomatous arteriitis

A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


generalized dystonia

A type of dystonia that affects all or most of the body.


Bifid proximal phalanx of the thumb

This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Iron accumulation in brain

An abnormal build up of iron (Fe) in brain tissue.


Multinucleated visceral epithelial cells

Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.


Contracture of the metatarsophalangeal joint of the 2nd toe

The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.


Loculated ascites

A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.


Periventricular white matter hyperintensities

Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


Neonatal seizure with bilateral symmetric automatism

Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically.


Focal cortical dysplasia type IIb

A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.


Pelvic bone exostoses

A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.


Absent antitragus

Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Weak pulse

A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.


Focal impaired awareness perseverative automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Abnormal speech discrimination

A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.


Focal cognitive seizure with conduction dysphasia/aphasia

A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.


Bifid tragus

Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.


Subcutaneous nodule

Slightly elevated lesions on or in the skin with a diameter of over 5 mm.


Intraluminal meconium calcification

Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.


Lower limb peromelia

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


Decreased basophil count

An abnormally reduced count of basophils per volume in the blood circulation.


Increased subcutaneous truncal adipose tissue

The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.


Elevated CSF angiotensin-converting enzyme concentration


Pectoralis major hypoplasia

Underdevelopment of the pectoralis major.


Flexion contracture of digit

A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Short distal phalanx of the 5th toe

Developmental hypoplasia of the distal phalanx of little toe.


Abnormal atrioventricular conduction

An impairment of the electrical continuity between the atria and ventricles.


Edema of the dorsum of hands

An abnormal accumulation of fluid beneath the skin on the back of the hands.


Type 1 and type 2 muscle fiber minicore regions

Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.


Abnormal circulating thyroglobulin level

A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


Anti-isoleucyl tRNA-synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase.


Pulmonary vein varix

Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.


Hemihypertrophy

Overgrowth of only one side of the body.


Thalamic calcification

Calcium deposition in the thalamus.


Decreased pre-bronchodilator forced vital capacity

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


Absent middle phalanx of the 3rd toe

Developmental aplasia of the middle phalanx of third toe.


Renal pelvic carcinoma

The presence of a carcinoma in the renal pelvis.


Broad fingertip

Increased width of the distal segment of a finger.


Decreased CSF lysine concentration

Abnormally decreased levels of lysine in cerebrospinal fluid.


Abnormal CSF valine concentration

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


Increased phytanic acid:pristanic acid ratio

An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


Valvular pulmonary stenosis

A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.


Generalized neonatal hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.


Increased anti-meat allergen IgE antibody level

Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.


Darwin tubercle of helix

Small expansion of the helical fold at the junction of the superior and descending portions of the helix.


Abnormal 4th finger phalanx morphology

Abnormality of the phalanges of the 4th (ring) finger.


Absent tibia

Absence of the tibia.


Volar fingernail

The presence of an extra nail on the palmar (volar, ventral) surface of the finger.


Bone marrow myeloid vacuolization

Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.


skeletal muscle disorder

A disease involving the skeletal muscle tissue.


Underdeveloped crus of the helix

Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.


leiomyosarcoma of the corpus uteri

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


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


Penile hypospadias

Location of the urethral opening on the inferior aspect of the penis.


Abnormal 1st metacarpal morphology

A structural anomaly of the first metacarpal.


Enlargement of the proximal femoral epiphysis

An abnormal enlargement of the proximal epiphysis of the femur.


Hypoplasia of the pons

Underdevelopment of the pons.


Conspicuously happy disposition

An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.


Abnormality of the internal capsule

An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.


Impaired arachidonic acid-induced platelet aggregation

Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.


Nontuberculous mycobacterial pulmonary infection

An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.


Molluscoid pseudotumors

Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.


Partial duplication of the phalanges of the hallux


Ivory epiphysis of the proximal phalanx of the 3rd finger

Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Curved proximal toe phalanx

A deviation from the normal straight shape of a proximal phalanx of one or more toes.


Abnormal circulating testosterone concentration

An anomalous concentration of testosterone in the blood.


Abnormality of immune serum protein physiology

An abnormality of the concentration or function of circulating immune proteins.


Hyperphalangy of the 3rd finger

An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.


Interface hepatitis

Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.


Adrenal leiomyoma

Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries


Peromelia

The distal parts of the limbs are missing leading to a stump formation.


Bilateral fetal pyelectasis

A bilateral form of fetal pyelectasis.


Absent epiphyses of the 4th finger

Absence of one or more epiphyses of the 4th finger.


osteopoikilosis

A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.


paraphimosis

A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.


Aplasia/Hypoplasia of the proximal phalanx of the 5th finger

Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.


Bullet-shaped proximal phalanx of the hallux

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


Osteolytic defects of the distal phalanx of the 4th toe


Bullet-shaped distal phalanx of the 4th toe

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


ceruminoma

A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.


Radial dysplasia

Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.


Accessory spleen

An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.


Vascular hamartoma

A benign focal growth composed of vascular tissue.


Periportal fibrosis

The presence of fibrosis affecting the interlobular stroma of liver.


Abnormal nasal septum morphology

An abnormality of the nasal septum.


Valinemia

Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.


Renal interstitial amyloid deposits

Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.


adrenal gland cancer

A malignant neoplasm involving the adrenal gland


Increased circulating guanosine concentration

Increased concentration of guanosine in the blood circulation.


Intraoral laceration

A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.


Facial-lingual fasciculations

Fasciculations affecting the tongue muscle and the musculature of the face.


Renal neutrophilic tubulitis

Infiltration of the renal tubular epithelium by neutrophils.


Pulmonary arteriovenous malformation

Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.


Abnormal electrophysiology of sinoatrial node origin

An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.


Central diaphragmatic hernia

A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.


Symphalangism affecting the distal phalanx of the 4th toe


Curved distal phalanx of the 5th finger

Curved appearance of the distal phalanx of the 5th (little) finger.


Pleural mass

A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


Lichenoid skin lesion

Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.


Fixated interest with abnormal focus

A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.


hair follicle neoplasm

A benign or malignant neoplasm arising from the hair follicle.


Elevated CSF gamma-aminobutyric acid concentration


Aplasia/hypoplasia involving bones of the upper limbs

Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.


Complete duplication of the middle phalanx of the 3rd toe

Complete duplication of middle phalanx of third toe.


Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. 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.


Focal impaired awareness sensory seizure with olfactory features

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


Axial malrotation of the kidney

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


Increased circulating surfactant protein level

An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.


Addictive non-substance behaviors

Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.


Wide nasal bridge

Increased breadth of the nasal bridge (and with it, the nasal root).


Oligoarthritis

A type of arthritis that affects up to four joints in the first six months of disease.


Pretesticular azoospermia

Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.


Left aortic arch with right descending aorta and right ductus arteriosus

The ring may be completed by the ductal ligament.


Internal carotid artery calcification

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


Decreased lymphocyte proliferation in response to anti-CD3

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.


Melanin pigment aggregation in hair shafts


Pulmonary interstitial thickening

Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.


Increased anti-bacteria IgE antibody level

Increased level of IgE antibody against bacteria.


Impaired platelet aggregation

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


cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.


nevus comedonicus syndrome

A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


Short 3rd metacarpal

Short third metacarpal bone.


Reduced beta/alpha synthesis ratio

A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.


Abnormal alveolar type II pneumocyte morphology

Any structural abnormality of alveolar type 2 (ATII) cells.


Ivory epiphysis of the distal phalanx of the 4th finger

Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Anti-MIT3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.


Antihelical shelf

Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.


Curved distal phalanx of the 5th toe

A deviation from the normal straight form of the distal phalanx of the fifth toe.


Cortical radial artery intima/media liquefactive necrosis

A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Enlarged epiphysis of the middle phalanx of the 2nd finger


Discontinuous ascending root of helix

Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.


Abnormal left ventricular outflow tract morphology

An abnormality of the outflow tract of the left ventricle.


Increased proportion of memory B cells

An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


fibroblastic neoplasm

A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.


Agranulocytosis

Marked decrease in the number of granulocytes.


Abnormal fetal central nervous system morphology

An anomalous structural finding of the fetal central nervous 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.


Smooth septal thickening on pulmonary HRCT

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


Total hyposmia

Reduced ability to detect any qualitative olfactory sensation.


Platonychia

Abnormal flat nail.


Focal aware vocal automatism seizure

A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.


Focal atonic seizure

A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.


Anti-aminoacyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.


Frequent temper tantrums

Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.


acheiria

The total absence of the hand, with no bony elements distal to the radius or ulna.


Patchy sclerosis of 2nd finger phalanx

Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.


Stiff wrist

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


Abnormality of ductus venosus blood flow

A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.


Interictal epileptiform activity

Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.


Fragmentation of the epiphyses of the 4th finger

Fragmented appearance of the epiphyses of the 4th finger.


Decreased specific antibody response to infection

A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.


Accumulation of lipid droplets in small-bowel enterocytes


Generalized hirsutism

Abnormally increased hair growth over much of the entire body.


Cone-shaped epiphyses of the 5th finger

A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Predominantly dermal neutrophilic infiltrate

Collection of neutrophils in the dermis.


Decreased circulating metanephrine concentration

Concentration of metanephrin in the blood circulation below the lower limit of normal.


Abnormal circulating pregnenolone concentration

An abnormality of the concentration of pregnenolone in the blood.


Prominent nasolabial fold

Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).


Exanthem

A widespread rash.


Occipital meningocele

A herniation of meninges through a congenital bone defect in the skull in the occipital region.


Focal emotional seizure with pleasure

Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.


Abnormal female reproductive system physiology


Auditory sensitivity

Decreased tolerance to sound.


Narrow femoral neck

An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Abnormal circulating deoxycorticosterone level

An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.


Abnormal lung lobation

A developmental defect in the formation of pulmonary lobes.


Increased neutrophil ribosomes

An increased number of ribosomes detected in neutrophils.


Intrapartum fever

The occurence of maternal fever during labor.


aprosencephaly

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


Renal interstitial inflammation

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


Abdominal symptom

A subjective manifestation of disease localized to the abdomen.


Rosenthal fibers

Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.


Absent ray

The absence of all phalanges of a digit and the associated metacarpal /metatarsal.


Abnormal amyloid beta 40 peptide CSF concentration

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.


Focal impaired awareness emotional seizure with paranoia

Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.


Auditory hypersensitivity

Hyperresponsive to sound that is abnormal in intensity and/or frequency.


tricuspid valve stenosis

Narrowing or stricture of the tricuspid orifice of the heart.


Neurenteric cyst

The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.


Double inlet atrioventricular connection

The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.


Triangular epiphysis of the distal phalanx of the 3rd finger

A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


atrophic glossitis

Glossy appearance of the entire tongue surface.


Anti-PKCgamma antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.


Short nasal septum

Reduced superior to inferior length of the nasal septum.


Small proximal tibial epiphyses

Reduced size of the proximal epiphysis of the tibia.


Elevated circulating 7-dehydrocholesterol concentration

Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal.


Patchy sclerosis of the distal phalanx of the hallux


Abnormal renal arteriole intima/media morphology

Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.


vulvodynia

Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


Abnormal proportion of memory T cells

An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.


Congenital pouch colon

A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.


Abnormal CSF glutamine family amino acid concentration

Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.


Distal/middle symphalangism of 2nd finger

Fusion of the terminal/distal and middle phalanges of the 2nd finger.


Grasp reflex

A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].


Abnormality of the epiphyses of the elbow


Abnormal male urethral meatus morphology


Single lineage myelodysplasia

Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).


Heavy proteinuria

Severely increased levels of protein in the urine (1000-3000 mg per day in adults).


Subcutaneous spheroids

Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.


Infection-related seizure

Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.


Atrophy of the dentate nucleus

Partial or complete wasting (loss) of dentate nucleus.


Delayed CNS myelination

Delayed myelination in the central nervous system.


Granulomatous cholangitis

Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.


Renal tubular polyoma virus inclusions

Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.


Skin infectious agent

The presence of an infectious agent in the skin.


Super-refractory status epilepticus

Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.


Methicillin-resistant Staphylococcus aureus infection

Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.


Abnormality of the Achilles tendon

An abnormality of the Achilles tendon.


Increased anti-gluten IgE antibody level

Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.


Abnormal thalamus morphology

An abnormality of the thalamus.


Increased anti-nut food product IgE antibody level

Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.


Focal cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.


Increased anti-animal protein IgE antibody level

Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.


Fibrocellular crescent

A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.


Malignant rhabdoid tumor of the bladder

A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.


Fractured epiphysis of middle phalanx of manus

A partial or complete breakage of the epiphysis of middle phalanx of manus.


Bowman capsular hyaline drops

An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.


Euthyroid hyperthyroxinemia

Increased levels of thyroxine without evidence of clinical thyroid disease.


Elevated circulating acetylcarnitine concentration

Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.


Anti-centromere antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


Absent pubic hair

Absence of pubic hair.


Abnormal circulating A-type atrial natriuretic peptide concentration

A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Reduced response to social cues

Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).


Neck muscle hypertrophy

Muscle hypertrophy affecting the muscles of the neck.