Aplasia of the vestibule

Complete absence of the vestibule of the inner ear.


Frontal release signs

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

Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.


Bracket epiphysis of the distal phalanx of the 2nd finger

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


Chess-pawn distal phalanges

A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.


Arachnoid granulation

Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.


Interlobular vein intima/media granulomatous venulitis

A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Anti-ARHGAP26 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).


Dural ectasia

A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.


Long clavicles

Increased length of the clavicles.


Intracranial epidermoid cyst

A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.


Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


Chronic oral candidiasis

Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.


Insufficient response to short acting pulmonary vasodilator

No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.


Recurrent skin infections

Infections of the skin that happen multiple times.


EEG with central sharp waves

EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Aplasia/Hypoplasia of the phalanges of the thumb


Flared humeral metaphysis

Flaring (increase of width with a splayed appearance) of the humeral metaphysis.


Aplasia/Hypoplasia of the phalanges of the 5th finger.


congenital total pulmonary venous return anomaly

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

Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.


Focal autonomic seizure with urge to urinate/defecate

A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.


Anti-glycyl tRNA-synthetase antibody positivity

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


developmental dysplasia of the hip

A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.


Progressive cervical vertebral spine fusion


Decreased urinary neopterin level

The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal.


Abnormality of the distal phalanx of the 4th finger


Decreased circulating epinephrine concentration

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


Cortical radial artery neutrophil hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.


Abnormal bladder morphology

Any structural anomaly of the bladder.


Preauricular skin tag

A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).


Abnormality of superior crus of antihelix

An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


Low self-esteem

Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself.


anodontia

Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.


EEG with occipital sharp slow waves

EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Diastomatomyelia

Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.


Feather allergy

Hypersensitivity in form of an adverse immune reaction against feathers.


Abnormality of the epiphysis of the 2nd metacarpal

Any abnormality of the epiphysis of the second metacarpal bone.


Beta 2-microglobulinuria

Increased level of beta 2-microglobulins in the urine.


Severe lactic acidosis

A severe form of lactic acidemia.


Acral ulceration

A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.


Laryngeal hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.


Decreased anterioposterior diameter of lumbar vertebral bodies


periventricular nodular heterotopia

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.


Nonprogressive muscular atrophy

Muscular atrophy that does not display a progression in severity with time.


Low posterior hairline

Hair on the neck extends more inferiorly than usual.


Whole-immunoglobulin paraproteinemia

An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Primary Caesarian section

Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.


Abnormal macrophage morphology

An abnormality of macrophages.


Reduced sympathetic expression

A reduction in showing sympathy to others, such as providing comfort when someone is sad or crying.


Increased HDL2b concentration

An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Abnormal pectoral muscle morphology

An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.


carotid artery disorder

A disease involving the carotid artery segment.


Triangular shaped proximal phalanx of the hallux


hyperglycinuria

An increased concentration of glycine in the urine.


Invasive pulmonary aspergillosis

Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.


Cerebral germinoma

The presence of a germ cell tumor of the cerebrum.


Bullet-shaped phalanges of the 3rd finger

A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Stippling of the epiphysis of the distal phalanx of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.


pretibial dystrophic epidermolysis bullosa

Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.


Abnormal ankle physiology

A functional anomaly of the ankle.


Abnormality of the second metatarsal bone


Head-banging

Habitual striking of one's own head against a surface such as a mattress or wall of a crib.


Abnormality of the hairline

The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.


Abnormality of the breast

An abnormality of the breast.


Short 3rd finger

Hypoplastic/small 3rd (middle) finger.


phosphohydroxylysinuria

An elevated concentration of phosphohydroxylysine in the urine.


Abnormal uvula morphology

Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.


Abnormal corpus cavernosum morphology

A structural anomaly of the corpus cavernosum, the erectile tissue of the penis.


Mobitz type II atrioventricular block

A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)


Sloping ulnar metaphysis

A sloped configuration of the metaphysis (shaft) of the ulna.


Bicoronal synostosis

Synostosis affecting the right and the left coronal suture.


Bilateral renal atrophy

A two-sided form of atrophy of the kidney.


respiratory tract neoplasm

A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.


Cone-shaped epiphysis of the distal phalanx of the 4th finger

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


Curved middle toe phalanx

A deviation from the normal straight form of one or more middle toe phalanges.


Separate origin of the left anterior descending and left circumflex artery

Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).


Foam cells

The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.


Large sella turcica

An abnormal enlargement of the sella turcica.


Recurrent upper respiratory tract infections

An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Dacryocytosis

Presence of teardrop-shaped red blood cells.


Abnormal ureter physiology

A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Nuchal cord

A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.


solitary bone cyst

A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.


Low-frequency hearing loss

A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).


Tracheal hemorrhage

Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.


Obsessive-compulsive trait

The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.


Mucin casts

A type of airway casts that consist of impacted mucus.


Delayed pubic bone ossification

Delayed maturation and calcification of the pubic bone.


Abnormal circulating hepcidin concentration

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


Irregular epiphyses of the 3rd finger

Irregular radiographic opacity of the epiphyses of the 3rd finger.


Focal impaired awareness motor seizure with negative myoclonus

A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.


Caudal appendage

The presence of a tail-like skin appendage located adjacent to the sacrum.


Increased circulating free T4 concentration

An elevated concentration of free thyroxine (fT4) in the blood circulation.


Enlarged metacarpal epiphyses

Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).


Abnormal blood monovalent inorganic cation concentration

An abnormality of monovalent inorganic cation homeostasis.


Bouchard's node

Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


Stereotypical hand wringing

Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.


Abnormal VLDL cholesterol concentration

Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.


Elevated circulating 2-hydroxybutyric acid concentration

Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.


cryofibrinogenemia

Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.


Prominent antitragus

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


Leydig cell insensitivity to gonadotropin


Delayed humeral epiphyseal ossification

A delay in the process of formation and maturation of the humeral epiphysis.


Decreased serum insulin-like growth factor 1

A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Neutrophilic urticarial dermatosis

A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.


Spina bifida occulta at S1

The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.


Decreased amyloid beta 42 peptide CSF concentration

A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Abnormal synovial membrane morphology

Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.


Infection due to encapsulated bacteria

An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.


Abnormal earlobe morphology

An abnormality of the lobule of pinna.


Anti-tyrosyl-tRNA synthetase antibody positivity

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


head and neck neoplasm

A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


Ambiguous genitalia, female

Ambiguous genitalia in an individual with XX genetic gender.


Smoker-inclusions in alveolar macrophages

In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.


palatal neoplasm

A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.


Abnormal humerus morphology

Any anomaly of the structure of the humerus.


Livedo racemosa

Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.


Arcuate artery intima/media arteriitis

Inflammation of the inner or middle layer of the arcuate arteries of the kidney.


Recurrent upper and lower respiratory tract infections

Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.


hyper-beta-alaninemia

Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


hyperlipoproteinemia

An elevated concentration of lipoproteins.


Paroxysmal vertigo

Paroxysmal episodes of vertigo.


Renal tubular cytomegalovirus inclusions

Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.


Diaphragmatic paralysis

The presence of a paralyzed diaphragm.


Anomalous origin of one pulmonary artery from ascending aorta

Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.


Pigmentation anomalies of sun-exposed skin


prolactin deficiency, isolated

Subnormal concentration of prolactin.


Abnormal superior vena cava morphology

Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.


Bronchial artery dilatation

Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.


Enlarged epiphysis of the distal phalanx of the thumb

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.


Patchy sclerosis of the distal phalanx of the thumb

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


Opposable triphalangeal thumb

A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.


Functional abnormality of the gastrointestinal tract

Abnormal functionality of the gastrointestinal tract.


Bilateral facial palsy

Two-sided or bilateral weakness of the muscles of facial expression and eye closure.


Abnormality of the musculoskeletal system

An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


Increased proportion of CD25+ mast cells

An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).


Excessive interest in others

An unusually strong interest in others in general or tendency to develop a strong interest in certain individuals.


Abnormal platelet function

Any anomaly in the function of thrombocytes.


Increased circulating creatine kinase BB isoform

An increased concentration of the BB isoform of creatine kinase in the blood circulation.


Elevated urine 3-methyl-2-oxovaleric acid level

Increased amount of 3-methyl-2-oxovaleric acid in the urine.


Abnormal circulating vitamin B6 concentration

An abnormal concentration of vitamin B6 in the blood circulation.


Anti-phenylalanyl tRNA synthetase antibody positivity

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


Abnormal esophagus physiology

Any physiological abnormality of the esophagus.


Hyperimidodipeptiduria

Elevated levels of proline-containing dipeptides in urine.


Poor conversational reciprocity

Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. May be characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable.


A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.


Neonatal seizure

A seizure occurring within the neonatal period (28 days beyond the full term date).


Tubo-ovarian abscess

A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.


Abnormal corticospinal tract morphology

Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.


Elevated urinary 3-hydroxybutyric acid

An increased amount of 3-hydroxybutyric acid in the urine.


EEG with central focal spikes

EEG with focal sharp transient waves of a duration less than 80 msec in the central region.


Arcuate vein medial/intimal liquefactive necrosis

A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Abnormality of the trapezium

An anomaly of trapezium.


Focal motor seizure with dystonia

A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.


Mucus plug

Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.


Aplasia/Hypoplasia of the sweat glands

Absence or developmental hypoplasia of the sweat glands.


Absent epiphysis of the proximal phalanx of the 2nd toe


Patchy hypopigmentation of hair

Reduced pigmentation of hair in patches.


Generalized weakness of limb muscles

Generalized weakness of the muscles of the arms and legs.


Anterior beaking of lower thoracic vertebrae

Anterior tongue-like protrusions of the lower thoracic vertebral bodies.


Aortic arch calcification

Calcification, that is, pathological deposition of calcium salts in the arch of aorta.


Decreased post-bronchodilator forced expiratory volume in one second

An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.


Glomerular subendothelial widening

Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.


Aplasia of the distal phalanx of the thumb

Absence of the distal/terminal phalanx of the thumb.


Increased serum leptin

An increased concentration of leptin in the blood.


Anti-islet antigen-2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.


cafe au lait spots, multiple

A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.


Giant neutrophil granules

The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.


Immotile sperm

A lack of mobility of ejaculated sperm.


Orange discolored tonsils

A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.


non-infectious meningitis

Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.


Abnormal cardiac exercise stress test

Abnormal results of exercise on heart function.


Tympanic membrane hypermobility

Abnormally increased ability to move of the tympanic membrane.


Metacarpal diaphyseal endosteal sclerosis

Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.


Triangular shaped distal phalanges of the toes


Congenital palmoplantar hyperkeratosis

Abnormal thickening of the skin on the palms and soles that is present at birth.


Perivascular dermis hyaline deposition

Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.


Linear C3 deposits along the epidermal basement membrane zone

Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Abnormal circulating osteocalcin level

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


Aplasia/Hypoplasia of the gallbladder

Absence or underdevelopment of the gallbladder.


Portosystemic collateral veins

Presence of biliary veins that serve as a collateral channel to the systemic circulation


Recurrent sinopulmonary infections

An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.


Short proximal phalanx of finger

Congenital hypoplasia of one or more proximal phalanx of finger.


Sclerosis of the proximal phalanx of the 3rd finger


Abnormal circulating citrulline concentration

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


Unusual infection

A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.


Decreased circulating hepcidin concentration

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


Pseudoepiphyses of the metacarpals

A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.


nasal bones, absence of

Absence of the nasal bone.


Interstitial cardiac fibrosis

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.


short stature due to primary acid-labile subunit deficiency

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.


Abnormal circulating proteinogenic amino acid concentration

An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Membranous subvalvular aortic stenosis

Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.


Cerebellar glioma

A glioma affecting the cerebellum.


Spinal dysraphism

A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.


Abnormal facial skeleton morphology

An abnormality of one or more of the set of bones that make up the facial skeleton.


2-3 finger syndactyly

Syndactyly with fusion of fingers two and three.


Abnormal substantia nigra morphology

A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.


Decreased specific antibody response to protein vaccine

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


Cardiac fibroma

A fibroma of the heart.


Hypoplastic posterior communicating artery

A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.


Abnormality of cranial sutures

Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


Stippling of the epiphyses of the hallux

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


Cervical agenesis

Congenital absence of the cervix.


Sterile pyuria

Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


Bacterial encephalitis

Encephalitis caused by bacterial infection.


Tapered finger

The gradual reduction in girth of the finger from proximal to distal.


Focal cortical dysplasia type IIIc

A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).


Irregular epiphyses of the proximal phalanges of the hand


Calcium nephrolithiasis

The presence of calcium-containing calculi (stones) in the kidneys.


Cold-sensitive myotonia

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.


Shoulder extension contracture

Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).


Myoclonic absence status epilepticus

Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.


Fine hair

Hair that is fine or thin to the touch.


Abnormality of the epiphyses of the middle phalanges of the hand


Small epiphysis of the proximal phalanx of the 5th finger

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


Premature fusion of phalangeal epiphyses

Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.


Short femoral neck

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


Aggression toward non-caregivers

Aggression that is directed towards non-caregivers.


Distended jugular lymphatic sacs

The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.


Hyperpigmented papule

A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.


Sweet craving

Excessive desire to eat sweet foods.


Impaired platelet adhesion

An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.


T-cell lymphoma/leukemia

A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.


Shortening of all metacarpals

Abnormal reduction in length of all metacarpal bones.


Hepatic amyloidosis

A form of amyloidosis that affects the liver.


Abnormal sex hormone-binding globulin level

A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.


High-grade vesicoureteral reflux

Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).


Enuresis diurna

Enuresis occurring during waking hours of the day.


Rhizomelic leg shortening

Disproportionate shortening of the proximal segment of the leg (i.e. the femur).


Jaw hyporeflexia

Reduced intensity of muscle tendon reflexes in jaw.


Mixed demyelinating and axonal polyneuropathy


Abnormality of the integument

An abnormality of the integument, which consists of the skin and the superficial fascia.


swayback

Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)


Mesoaxial foot polydactyly

The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.


Jumping

An excessive frequency of jumping in place.


Abnormal cardiac test

Abnormal test result of cardiovascular physiology.


Reduced quantity of Von Willebrand factor

Decreased quantity of von Willebrand factor.


commissural lip pits

A depression located at an oral commissure.


Increased comfort with casual physical contact

An individual exhibits more physical contact with others than their usual behavior, seen as increased touch in platonic interactions or greater contact in romantic relationships.


Adrenal mass

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


Few cafe-au-lait spots

The presence of two to five cafe-au-lait macules.


Long foot

Increased back to front length of the foot.


Small intestinal hamartoma

A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the small intestine.


Electrical alternans

The QRS complexes of the electrocardiogram alternate in height.


Vascular ring

A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


epididymal neoplasm

A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.


Recurrent staphylococcal infections

Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.


Gait ataxia

A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.


Triangular epiphyses of the 2nd finger

A triangular appearance of the epiphyses of the 2nd finger of the hand.


Aplasia/Hypoplasia of the nails

Aplasia or developmental hypoplasia of the nail.


Hypertrophy of the lower limb

Abnormal increase in size of the lower limbs (due to an increase of the size of cells).


Elevated CSF hydroxyproline concentration


Partial duplication of the middle phalanx of the 2nd finger

Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


Pain insensitivity

Inability to perceive painful stimuli.


splenic abscess

An abscess that is located in the spleen.


Coiled sperm flagella

Sperm cells whose flagella are twisted (coiled).


Aplasia of the proximal phalanx of the 4th toe


Globus pallidus hypointensity on susceptibility-weighted imaging

Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Bladder duplication

A congenital anomaly characterized by the presence of two bladders.


Hyperglycorrhachia

Abnormally high glucose concentration in the cerebrospinal fluid.


Relative macrocephaly

A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.


Crumpled ear

Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.


Abnormal pigmentation of the oral mucosa

An abnormality of the pigmentation of the mucosa of the mouth.


Focal hyperkinetic seizure

A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.


Cortical thickening of humeral diaphysis


Coccidioidal meningitis

A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.


Focal impaired awareness head nodding automatism seizure

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


Multiple long-bone exostoses

Multiple exostoses originating in long bones.


Pancreatic hamartoma

A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the pancreas.


ovarian sex cord-stromal tumor

A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.


Diaphragmatic weakness

A decrease in the strength of the diaphragm.


Anti-myelin oligodendrocyte glycoprotein antibody positivity

Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.


Cautious gait

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


Recurrent infections in infancy and early childhood

Recurrent infections at an early age with improvement in later childhood.


Congenital earlobe sinuses

Pits in the earlobes at the location where ears are typically pierced for earrings.


Abnormal serum estrone

A deviation from the normal concentration of circulating estrone.


Enlarged epiphysis of the distal phalanx of the 5th toe


Irregular epiphysis of the proximal phalanx of the 2nd finger


Brachiocephalic artery aneurysm

An abnormal widening (dilatation) of the brachiocephalic artery


EEG with hyperventilation-induced focal epileptiform discharges

Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Anti-phosphatidyl ethanolamine antibody positivity

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


Sandal gap

A widely spaced gap between the first toe (the great toe) and the second toe.


Duplication of phalanx of 5th finger

This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


patent ductus venosus

A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).


Anal pain

Pain in and around the anus or rectum (perianal region).


Duplication of the proximal phalanx of the 3rd toe

Partial or complete duplication of proximal phalanx of third toe.


isolated focal cortical dysplasia type II

A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.


Anterior predominant pachygyria with 5-10 mm cortical thickness

Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Delayed patellar ossification

Formation of bone in the patella later than normal.


Agenesis of the carotid canal

A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.


Enlarged proximal interphalangeal joints


Focal aware motor seizure

A type of focal motor seizure in which awareness is retained throughout the seizure.


Abnormal circulating dicarboxylic acid concentration

Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.


Abnormality of urine homeostasis

An abnormality of the composition of urine or the levels of its components.


physical urticaria

A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.


Elevated haptoglobin level

An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.


Motor regression

Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.


Focal impaired awareness verbal 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 the production of single or repetitive words, phrases, or brief sentences at onset.


Hypoplasia of the brainstem

Underdevelopment of the brainstem.


Abnormal doll's eye reflex

The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.


transient myeloproliferative syndrome

A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.


Intratubular light-chain casts

The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.


Thoracic aorta calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.


Lip telangiectasia

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.


Corneal amyloidosis

A form of amyloidosis that is located in the cornea.


Abnormal hemoglobin concentration

Any deviation from the normal concentration of hemoglobin in the blood.


Gallbladder biliary sludging

Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.


Abnormal circulating pyrimidine concentration

Any deviation from the normal concentration of a pyrimidine in the blood circulation.


pulmonary agenesis

An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.


Edematous chorionic villi

Swelling of the chorionic villi owing to fluid accumulation.


Primary amenorrhea

Abnormally late or absent menarche in a female with normal secondary sexual characteristics.


Increased glucose-6-phosphate dehydrogenase level in tissue

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


Recurrent infections due to aspiration

Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.


Glomerular endocapillary neutrophil hypercellularity

Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Increased CSF urate concentration

Increased concentration of urate in the cerebrospinal fluid.


Duplication of the middle phalanx of the 3rd toe

Partial or complete duplication of middle phalanx of third toe.


acute biphenotypic leukemia

An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)


Bullet-shaped distal phalanges of the hand

Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Aplasia of the maxilla

A congenital defect characterized by absence of the Maxilla.


spondylolysis

A defect in the pars interarticularis of a vertebral bone.


Sleep-related eating disorder

Eating while asleep can be problematic, as it may involve potentially harmful behaviors like overeating or consuming raw meat.


Small epiphysis of the proximal phalanx of the 4th toe


Entrapment neuropathy of suprascapular nerve

An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.


Absent epiphyses of the thumb

Absence of one or more epiphyses of the thumb.


Motor neuron atrophy

Wasting involving the motor neuron.


Short thumb

Hypoplasia (congenital reduction in size) of the thumb.


Sclerosis of the distal phalanx of the hallux


Focal impaired awareness autonomic seizure with urge to urinate/defecate

A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.


Abnormal lung development

A structural defect associated with abnormal development of the lung.


Triangular epiphysis of the middle phalanx of the 5th finger

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


aortic valve prolapse

The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.


Hyperparakeratosis

Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.


Aplasia of the phalanges of the toes

Absence of a digit or of one or more phalanges of a toe.


Vesicoallantoic abdominal wall defect

An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.


Small intestinal polyp

A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.


Coxa magna

Widening of the femoral head and neck.


Joint contracture of the 4th finger

Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.


Single raphe bicuspid aortic valve

A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.


Hairshafts with longitudinal grooves

Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.


Decreased intracranial pressure

A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.


Elongated superior cerebellar peduncle

Increased length of the superior cerebellar peduncle.


Abnormal mitral valve physiology

Any functional anomaly of the mitral valve.


Palmoplantar scaling skin

Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.


Complete duplication of the distal phalanx of the 2nd toe

Complete duplication of the distal phalanx of second toe.


Proximal symphalangism of hands

The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.


Parietal meningocele

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


Absent epiphysis of the proximal phalanx of the 4th toe


Temporomandibular joint crepitus

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


Abnormality of the anterior fontanelle

An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.


Abnormality of the urethra

An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.


Proximal/middle symphalangism of the 2nd finger

Fusion of the proximal and middle phalanges of the 2nd finger.


Focal impaired awareness autonomic seizure with lacrimation

A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.


Holosystolic murmur

A heart murmur that occurs during the entire systolic phase from S1 to S2.


Scalp tenderness

Pain or discomfort of the scalp elicited by palpation.


Abnormal response to human chorionic gonadotrophin stimulation test

An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.


Abnormal atrioventricular valve morphology

An abnormality of an atrioventricular valve.


visual agnosia

An inability to recognize or interpret objects by sight.


Abnormal nasal mucus secretion

Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.


Asymptomatic hyperammonemia

An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.


Broncholith

A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis


Abnormal plasmablast proportion

A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.


Small trapezium

Underdevelopment of the trapezium.


Knee clonus

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


Chronic (near) absent circulating IgG3

A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.


beta-aminoisobutyric acid, urinary excretion of

An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.


Medullary peritubular capillary lumen organized thrombi

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


Ivory epiphysis of the distal phalanx of the 3rd toe


Gallbladder dyskinesia

Reduced motility of the gallbladder with reduced emptying fraction.


supravalvular aortic stenosis

SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.


Generalized arterial tortuosity

Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.


Ridged cranial sutures

An overlap of the bony plates of the skull in an infant, with or without early closure.


Short phalanx of finger

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.


Elbow clonus

Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.


Tetralogy of Fallot with absent pulmonary valve

Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.


Ureterovesical junction obstruction

Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.


Absent P wave

The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.


Feeding difficulties in infancy

Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.


Abnormality of the nose

An abnormality of the nose.


Areflexia of lower limbs

Inability to elicit tendon reflexes in the lower limbs.


Class I obesity

Obesity with a body mass index of 30 to 34.9 kg per square meter.


Abnormal capillary physiology

A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Peripheral axonal degeneration

Progressive deterioration of peripheral axons.


Fractured elbow

A partial or complete breakage of the elbow.


Laryngeal calcification

Calcification (abnormal deposits of calcium) in the laryngeal tissues.


Abnormal tragus morphology

An abnormality of the tragus.


Bullet-shaped phalanges of the hand

The presence of short and wide phalanges which taper distally ("bullet shaped").


Osteolytic defects of the phalanges of the hallux


Abnormal skin morphology of the palm

An abnormality of the skin of the palm, that is, the skin of the front of the hand.


Dilated third ventricle

An increase in size of the third ventricle.


Spontaneous pneumothorax

Pneumothorax occurring without traumatic injury to the chest or lung.


Hip pain

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


Anti-Y-box protein-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.


Shovel-shaped maxillary central incisors

A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.


Aplasia/Hypoplasia involving the femoral head and neck


Decreased number of large peripheral myelinated nerve fibers

A reduced number of large myelinated nerve fibers.


Absence of intrinsic factor

Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.


Genital tract atresia

Congenital occlusion of a tube in the genital tract.


Lumbar hypertrichosis

Excessive, increased hair growth located in the lumbar region.


Abnormal renal morphology

Any structural anomaly of the kidney.


Hypoprolinemia

A decreased amount of proline in the blood.


Abnormal gastric mucosa morphology

An abnormality of the gastric mucous membrane.


Lateral spinal meningocele

Protrusion of the arachnoid and dura through spinal foramina.


Abnormal Bowman space morphology

Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.


Aplasia/hypoplasia involving forearm bones

Absence (due to failure to form) or underdevelopment of one or more forearm bones.


Anti-Ku antibody positivity

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


Bullet-shaped proximal phalanges of the hand

Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.


Extreme oligozoospermia

A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.


Short N2 sleep

Disruptions in the second stage of NREM sleep.


Elevated circulating pyridinoline concentration

An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.


Abnormality of exocrine pancreas physiology

A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.


Oligoclonal elevation of circulating IgM

An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.


Irregular epiphysis of the middle phalanx of the 2nd toe


Sarcomatoid carcinoma of the tongue

Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.


Grade I preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.


Anomalous origin of the left common carotid artery from the main pulmonary artery

The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.


Jamais vu aura

A subjective feeling that an experience which has occurred before is being experienced for the first time.


Decreased circulating 18-hydroxycortisone level

A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Abnormal brain lactate level by MRS

A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


Pes cavus

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).


Anesthetic-induced rhabdomylosis

Rhabdomyolysis induced by anesthesia.


Elevated circulating hepcidin concentration

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


Xanthomas of the palmar creases

The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


Decreased cystatin C level

A decreased concentration of cystatin C in the blood circulation.


Abnormal proportion of memory B cells

A deviation of the normal proportion of memory B cells in circulation relative to 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).


Anti-GM1 antibody positivity

Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury


Right ventricular cardiomyopathy

Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


Superficial blush-like subcutaneous fatty lesions

Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.


Fractured lower limb segment

A partial or complete breakage of the lower limb segment.


hemidystonia

A multifocal dystonia that involves the arm and leg on the same side of the body.


Irritability

A proneness to anger, i.e., a tendency to become easily bothered or annoyed.


Abnormal pulmonary artery morphology

An abnormality of the structure of the pulmonary artery.


Anti-desmoglein-3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.


Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.


Increased proportion of plasmablasts

An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.


Laryngeal hypoplasia

Underdevelopment of the larynx.


Metatarsus valgus

A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.


Hippocampal sclerosis

Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.


Dysplasia of the superior cerebellar vermis

A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.


Congenital panfollicular nevus

A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.


Thin vermilion border

Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).


Renal calcium wasting

High urine calcium in the presence of hypocalcemia.


Stahl ear

The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.


Pancreatic alpha-cell hyperplasia

A diffuse and specific increase in the number of alpha-cells.


Complete duplication of the middle phalanx of the 5th toe.


Anti-GD1a IgM antibody positivity

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


Abnormal perifollicular morphology

Any structural anomaly in the areas surrounding the hair follicles.


Decreased circulating globulin level

An abnormally reduced concentration of globulins in the blood.


Abnormal renal arteriole endothelium morphology

Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.


Median cleft upper lip

A type of cleft lip presenting as a midline (median) gap in the upper lip.


Aplasia/hypoplasia involving bones of the extremities


Barrel-shaped tooth

A tooth crown with convex mesial and distal surfaces.


Abnormal 2nd metacarpal morphology

Any abnormality of the second metacarpal bone.


Abnormal fetal genitourinary system morphology

An anomalous structural finding of the fetal genitourinary 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.


Dark yellow urine

An abnormal dark-yellow color of the urine.


Vaginal passage of hydatidiform mole tissue

Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole).


Fused labia majora

The outer labia are sealed together.


Decreased dermal collagen

Abnormally reduced amount of collagen fibers in the dermis.


Coxa valga

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).


Abnormal appendicular skeleton morphology

An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.


Increased circulating apolipoprotein circulation

Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).


Dilatation of the renal pelvis

The presence of dilatation of the renal pelvis.


Episodic metabolic acidosis

Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.


Animal protein allergy

Hypersensitivity in form of an adverse immune reaction against animal proteins.


The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.


Focal aware cognitive seizure with hallucination

A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.


Abnormality of connective tissue

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).


Green urine

An abnormal green color of urine.


EEG with parietal sharp waves

EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Secondary hyperaldosteronism

A form of hyperaldosteronism caused by abnormally increased renin levels.


Biconvex vertebral bodies

Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.


Left anterior fascicular block

Conduction block in the anterior division of the left bundle branch of the bundle of His.


Decreased circulating apolipoprotein E concentration

Concentration of apolipoprotein E below the lower limit of normal.


Status epilepticus with ictal paresis

A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.


X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.


Coarse hair

Hair shafts are rough in texture.


Chronic fatigue

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.


Disproportionate short-limb short stature

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.


Tracheal cartilaginous sleeve

Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.


Aplasia/Hypoplasia of the phalanges of the 2nd finger


Noncompaction cardiomyopathy that affects both ventricles.


Oral motor hypotonia

Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.


Triangular epiphysis of the proximal phalanx of the 2nd toe


Complete duplication of the middle phalanges of the hand

A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.


Focal aware sensory seizure

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


Dysgyria

An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.


Exercise-induced leg cramps

Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.


Reduced eye contact

A reduced frequency or duration of eye contact.


neuroepithelial neoplasm

A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.


Abnormal CSF aromatic amino acid concentration

Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.


Partial duplication of the middle phalanx of the 5th toe.


Lipid-laden macrophages in bronchoalveolar fluid

Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.


normal pressure hydrocephalus

A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)


Absence of the reflex of the tensor tympani muscle


Diamond-Blackfan anemia

A congenital aregenerative and often macrocytic anemia with erythroblastopenia.


Silhouette sign

The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.


Talipes valgus

Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.


Progressive conductive hearing impairment

A progressive type of conductive deafness.


Abnormal red nucleus morphology

Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.


Abnormal sacral segmentation

An abnormality related to a defect of vertebral separation of sacral vertebrae during development.


Abnormality of the peripheral nervous system

Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


Adrenal xanthomatosis

Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Steroid-sensitive nephrotic syndrome with frequent relapses

A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.


Increased pituitary glycoprotein hormone alpha subunit level

An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.


Hyperplastic labia majora

Overgrowth of the outer labia.


endocardial fibroelastosis

Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.


Triangular epiphysis of the distal phalanx of the 4th toe


Intellectual disability, mild

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.


Aplasia of the 3rd finger

Absent 3rd finger.


Abnormal urinary hypoxanthine level

The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits.


Isolated systolic hypertension

Elevated systolic blood pressure without an elevated blood pressure.


Narrow mouth

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).


Recurrent meningitis

An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.


Short-segment aganglionic megacolon

A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.


Secundum atrial septal defect

A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


Triangular shaped thumb phalanx

Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.


Recurrent aspiration pneumonia

Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.


vibratory urticaria

This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.


Elevated functional residual capacity

An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.


Loss of ambulation

Inability to walk in a person who previous had the ability to walk.


Long palm

For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.


Reversible renal failure

Acute renal failure with resolution of manifestations.


Abnormality of intrinsic muscle of tongue

An abnormality of an intrinsic muscle of tongue.


Fetal posterior fossa hemorrhage

A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.


Subcutaneous ossification

Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.


Air trapping

Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.


Focal autonomic seizure with piloerection

A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.


Curved distal phalanx of the thumb

A deviation from the normal straight shape of the distal phalanx of the thumb.


Increased anti-dairy protein IgE antibody level

Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.


High-frequency sensorineural hearing impairment

A form of sensorineural hearing impairment that affects primarily the higher frequencies.


bifid uvula

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.


Spastic dysarthria

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


Premature graying of hair

Development of gray hair at a younger than normal age.


Oval macrocytosis

Enlarged, oval-shaped erythrocytes (red blood cells).


Clavicular pseudarthrosis

A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).


Tibiofibular interosseous membrane calcification

Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg.


uterine anomalies

An abnormality of the uterus.


Mycobacterium abscessus abscessus infection

Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.


Absent cupid's bow

Lack of paramedian peaks and median notch of the upper lip vermilion.


Cervical neoplasm

A tumor (abnormal growth of tissue) of the uterine cervix.


Abnormal sebaceous gland morphology

Any structural anomaly of the sebaceous glands.


Abnormal natural killer cell count

Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.


Dilatation of superior mesenteric artery

Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .


Abnormal 3rd finger phalanx morphology

Abnormality of the phalanges of the 3rd (middle) finger.


Focal aware sensory seizure with visual features

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.


Chronic decreased circulating IgG2

A lasting decrease of immunoglobulin G2 (IgG2) in the blood.


Low alkaline phosphatase of hepatic origin

An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.


Anterior hypopituitarism

A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


Unilateral renal hypoplasia

One sided hypoplasia of the kidney.


tooth agenesis

A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.


Streak ovary

A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).


Reduced blood urea nitrogen

An abnormally low concentration of urea nitrogen in the blood.


Short N1 sleep

Disruptions in the first stage of NREM sleep can occur.


Speech apraxia

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


Elevated circulating beta-aminoisobutyric acid concentration

An increased concentration of beta-aminoisobutyric acid in the blood circulation.


Facial capillary hemangioma

Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.


Increased circulating ethanolamine concentration

Abnormally increased levels of ethanolamine in circulation.


Persistent lactic acidosis

A continuous form of lactic acidemia.


Increased blood pressure

Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.


Triangular shaped distal phalanx of the 5th finger

Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Vaginal clear cell adenocarcinoma

A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.


Abnormal CSF homovanillic acid concentration

Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


Reduced circulating urocanic acid concentration

The concentration of urocanic acid in the blood circulation is below the lower limit of normal.


Calcified ovarian cyst

A cyst of the ovary that exhibits deposition of calcium salts.


Rem parasomnia

Parasomnia occurs during REM sleep.


Dilated superficial abdominal veins

Increase in diameter of the veins located underneath the skin of the abdomen.


Ectopic liver

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


Abnormal presence of ultra-large von Willebrand factor multimers

Detection of abnormal ultra-large von Willebrand factor multimers.


Medial/intimal arcuate venosclerosis

Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.


Small epiphysis of the proximal phalanx of the 5th toe


Bilateral vertebral artery hypoplasia

Underdevelopment of the vertebral artery on both sides.


Fractured metacarpophalangeal joint

A partial or complete breakage of the metacarpophalangeal joint.


Hypothalamic arteriovenous malformation

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


Abnormal mastoid morphology

An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.


Purple urine

An abnormal purple color of the urine.


Mixed respiratory and metabolic acidosis


Decreased proportion of plasmablasts

A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.


Aplasia/hypoplasia involving bones of the lower limbs

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


homocystinuria

An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.


Intralobular interstitial thickening

A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.


Increased CSF homocarnosine concentration

Abnormally increased levels of homocarnosine in cerebrospinal fluid.


Pulmonary arterial hypertension with lack of acute response to NO challenge

A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).


Increased circulating beta-carotene concentration

The concentration of beta-carotene in the blood circulation is above the upper limit of normal.


Carpal osteolysis

Osteolysis affecting carpal bones.


Finger symphalangism

An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.


Declarative memory loss

Impaired ability to remember facts and events.


Gustatory sensory seeking

Pursuit of a particular taste that is abnormal in intensity and/or frequency.


Anti-Ri antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.


Decreased circulating apolipoprotein A-I concentration

Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.


Absent mastoid

A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.


Pendulous urethral stricture

A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.


Cone-shaped epiphyses of the middle phalanges of the hand


Reduced growth-hormone binding protein level

A decreased blood concentration of growth hormone binding protein.


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


Small epiphysis of the middle phalanx of the 4th finger

Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.


Increased CSF interferon alpha

Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).


Dorsal subluxation of ulna

Partial dislocation of the ulna in the dorsal direction.


Slender distal phalanx of finger

Reduced diameter of the distal phalanx of finger.


Vacuolated lymphocytes

The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.


Fragmentation of the epiphysis of the middle phalanx of the 5th toe


Acanthocytosis

Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


Asymmetrical insertion of the midpiece into the head

Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.


Abnormality of infra-orbital nerve

A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.


Mottled pigmentation of photoexposed areas


Supernumerary pulmonary fissure

Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.


Focal hyperintensity of cerebral white matter on MRI

An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.


Absent skin pigmentation

Lack of skin pigmentation (coloring).


Cock-walk gait

An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.


Stooped posture

A habitual positioning of the body with the head and upper back bent forward.


Dermal multinucleated giant cells

Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.


Specific anosmia

Anosmia for one particular odor.