Stippling of the epiphyses of the 4th toe

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


Absent isohemagglutinin level

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Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Thoracic kyphosis

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


Aplasia of the 2nd finger

Absent 2nd (index) finger.


Distal ulnar hypoplasia

Underdevelopment of the distal portion of the ulna.


Osteolytic defects of the distal phalanx of the hallux


Hypoperistalsis

Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.


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

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


Fallopian tube cyst

A fluid filled sac located in the Fallopian tube.


Focal seizure with eyelid myoclonia

Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.


Abnormality of the proximal phalanx of the 5th finger

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


EEG with temporal focal spikes

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


Patellar aplasia

Absence of the patella.


Criss-cross atrioventricular valves with superior-inferior ventricles

Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.


Superior-inferior ventricles without criss-cross atrioventricular valves


Lipomeningocele

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


Euphoria

A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.


Abnormality of the dorsal column of the spinal cord

An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.


Penoscrotal hypospadias

A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.


Partial absence of specific antibody response to hepatitis B vaccine

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


EEG with focal sharp waves

EEG with focal sharp transient waves of a duration between 80 and 200 msec.


Mild microcephaly

Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).


plexiform neurofibroma

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An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)


Head tremor

An unintentional, oscillating to-and-fro muscle movement affecting head movement.


Decreased circulating ceruloplasmin concentration

Decreased concentration of ceruloplasmin in the blood.


Short upper lip

Decreased width of the upper lip.


Prolonged reptilase time

An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.


Cortical peritubular capillary intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.


Anti-HLA-A IgG1 antibody positivity

The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Abnormal umbilical stump bleeding

Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.


peripheral nervous system disorder

A disease involving the peripheral nervous system.


Delayed ability to sit

A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.


Abnormality of fibrinolysis

Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)


Unilateral wrist flexion contracture

A chronic loss of wrist joint motion on one side only.


Bracket epiphysis of the middle phalanx of the 3rd toe


Progressive microcephaly

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.


Chronic lymphocytic meningitis

Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).


Enlarged epiphysis of the proximal phalanx of the 5th toe


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


Elevated circulating erythropoietin concentration

Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Abnormality of the inner ear

An abnormality of the inner ear.


Reduced plasminogen activator inhibitor 1 antigen

Reduced level of plasminogen activator inhibitor 1 antigen.


Abnormal dense granules

Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.


Socially innappropriate questionning

A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.


Metopic suture patent to nasal root

The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.


Tongue telangiectasia

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


Elevated circulating thrombopoietin concentration

Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


Short nail

Decreased length of nail.


2-5 finger cutaneous syndactyly

A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


Shark teeth

Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.


Bullet-shaped toe phalanx

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


Unicornuate uterus

A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.


Mesangial hypercellularity

Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.


bronchial neoplasm

Tumors or cancer of the bronchi.


Hyperplastic colonic polyposis

Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.


Abnormal reticulocyte morphology

A reticulocyte abnormality.


Absent left main coronary artery

The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.


Abnormal glucose-6-phosphate dehydrogenase level in blood

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


Palmoplantar cutis laxa

Loose, wrinkled skin of hands and feet.


Waxy casts

A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.


Kinked brainstem

A kinked appearance of the brainstem, i.e., an exaggerated flexure.


Submucous cleft soft palate

A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.


Diffusely thickened glomerular basement membrane

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


Abnormal amygdala morphology

A structural anomaly of the amygdala.


aneurysmal bone cyst

A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.


Facial neoplasm

A tumor (abnormal growth of tissue) of the face.


Cerebellar vermis hypoplasia

Underdevelopment of the vermis of cerebellum.


Cutaneous wound

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


Cone-shaped epiphyses of the 4th finger

A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Septate gallbladder

Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.


Abnormality of the epiphyses of the 5th toe


Confluent hypointensity of cerebral white matter on MRI


Pelger-Huet anomaly

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.


Ivory epiphysis of the distal phalanx of the 2nd finger

Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Delayed talus ossification

Delayed maturation and calcification of the talus.


Patchy sclerosis of 4th finger phalanx

Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.


enthesitis

Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


Cortical sclerosis

Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.


Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


Spinal hypomyelination

Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.


Meromelia

Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.


Abnormality of skull size

Any abnormality of the size of the skull.


Abnormality of the brachial nerve plexus

Any abnormality of the brachial nerve plexus.


Abnormality of the anus

Abnormality of the anal canal.


porencephaly

Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.


Stippling of the epiphysis of the proximal phalanx of the hallux

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


Abnormal cartilage morphology

Any morphological abnormality of cartilage.


Hamartomatous stomach polyps

Polyp-like protrusions which are histologically hamartomas located in the stomach.


Serpiginous crus of helix

Curving course of the crus of the helix, approaching or joining the antitragus.


Podocyte foot process effacement

An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.


Aplasia/Hypoplasia of the 4th metacarpal

Aplasia or Hypoplasia affecting the 4th metacarpal.


Echogenic intracardiac focus

A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.


Podocyte hypertrophy

Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


Prolactinoma

A benign tumor (adenoma) of the pituitary gland


Delayed ossification of the trapezoid bone

Formation of bone tissue of trapezoid is less than expected for age.


Abnormality of acid-base homeostasis

An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


Tubulointerstitial fungal infiltration

Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.


Fractured proximal epiphysis of middle phalanx of manual digit 3

A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.


Decreased specific antibody response to vaccination

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


Distal upper limb amyotrophy

Muscular atrophy of distal arm muscles.


Intracranial arterial calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).


Anti-Tr/DNER antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


Abnormal thalamic size

Deviation from the normal range of size of the thalamus.


Triangular epiphysis of the proximal phalanx of the 2nd finger


Bracket epiphyses of the 4th finger

An abnormality of the fourth 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.


malignant hyperthermia of anesthesia

A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.


Ski jump nail

Nails that slope upward at the free edge.


Premature occlusive vascular stenosis

Peripheral arterial stenosis with onset before the age of 50 years.


Abnormality of the ductus choledochus

An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.


Abnormal plantar dermatoglyphics

An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.


Steppage gait

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


Microdontia of primary teeth

Decreased size of the primary teeth.


Abnormal metacarpal morphology

Any abnormal shape or structure of the metacarpal bones.


Lip freckle

Increased focal pigmentation of the vermilion of the lips.


Increased urine neutrophil count

Abnormally increased count of neutrophils in urine.


Overweight

Increased body weight with a body mass index of 25-29.9 kg per square meter.


Abnormal scrotal rugation

Anomaly of the folded ridges (wrinkles) of skin of the scrotum.


Focal cognitive seizure with auditory agnosia

A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


Cutaneous macular amyloidosis

A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


Right ventricular hypertrophy

In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.


Anterior wedging of L1

An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).


Anti-GD1b antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Hyperxanthinemia

An increased level of xanthine in the blood circulation.


Biliary epithelial hyperplasia

Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.


Intralobar nephroblastomatosis

Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


Febrile seizure outside the age of 3 months to 6 years

Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Abnormal glucose homeostasis

Abnormality of glucose homeostasis.


Delayed onset bleeding

Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.


Abnormal circulating estrogen level

A deviation from normal concentration of the hormone estrogen in the blood circulation.


Lingual dystonia

Involuntary protrusions, movements, spams and contortions of the tongue.


Basal ganglia edema

Swelling within the basal ganglia due to the accumulation of fluid.


Foot oligodactyly

A developmental defect resulting in the presence of fewer than the normal number of toes.


severe congenital neutropenia

A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.


Abnormal hindbrain morphology

An abnormality of the hindbrain, also known as the rhombencephalon.


Absent epiphyses of the phalanges of the hand

Absence of one or more epiphyses of the phalanges of the fingers.


Abnormal lower lip morphology

An abnormality of the lower lip.


Abnormality of the sense of smell

An anomaly in the ability to perceive and distinguish scents (odors).


Fractured fused sacrum

A partial or complete breakage of the fused sacrum.


High renal tubular epithelial cell N/C ratio

At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.


Disseminated cutaneous warts

Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


Gingival cleft

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


Hypoplasia of the maxilla

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.


Partial absence of finger

The absence of a phalangeal segment of a finger.


Abnormal CSF aspartate concentration

Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.


Renal necrosis

Cell death (necrosis) affecting one or more parts of the kidney.


spermatogenic failure 6

Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.


Reduced radioactive iodine uptake

A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


Chronic (near) absent circulating IgG4

A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.


alopecia totalis

Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


Absent pigmentation of chest

Lack of skin pigmentation (coloring) of the chest.


Fetal anemia

Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.


Biceps hyporeflexia

Reduced intensity of the biceps tendon reflex.


Decreased circulating membrane cofactor protein concentration

Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.


Focal bilateral motor seizure

A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.


Arcuate artery intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.


Focal aware tonic seizure

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


Apical hypertrabeculation of the left ventricle

An increased number and density of the trabeculae in the apex (tip) of the left ventricle.


External tibial torsion

External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .


Pseudoepiphysis of the middle phalanx of the 3rd finger

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


Neoplasm of fatty tissue

A tumor (abnormal growth of tissue) of adipose tissue.


Basal ganglia calcification

The presence of calcium deposition affecting one or more structures of the basal ganglia.


Adrenal gland dysgenesis

Abnormal development of the adrenal gland.


Sclerosis of middle toe phalanx

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


Limb joint contracture

A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.


Cortical radial artery leukocyte hypercellularity

A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


Buried teeth encased in mucopolysaccharide


Bilateral superior vena cava

The presence of a left and a right superior vena cava.


Absent sperm axoneme central pair complex

Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.


Minifascicle formation

A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.


Abnormal circulating phytanic acid concentration

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


Chronic partially decreased circulating IgG4

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


Increased fetal movement

An abnormal increase in quantity or strength of fetal movements.


Severe muscular hypotonia

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.


Paradoxical myotonia

A type of myotonia that worsens with repeated muscle contractions.


Poliosis

Circumscribed depigmentation of the hair of the head or the eyelashes.


Fractured mandible

A partial or complete breakage of the mandible.


Increased circulating osteocalcin level

An elevated level of osteocalcin in the blood.


Excessive checking

Checking behavior that is excessive for the situational context.


Incisor macrodontia

Increased size of the incisor tooth.


Anterior concavity of thoracic vertebrae


Ivory epiphysis of the distal phalanx of the hallux


Aplasia/Hypoplasia of the proximal phalanx of the thumb

This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Aplasia/Hypoplasia involving the carpal bones

Absence or underdevelopment of the carpal bones.


Decreased amplitude of sensory action potentials

A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.


Reduced left ventricular ejection fraction

A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


Curved proximal phalanx of the 4th toe

A deviation from the normal straight form of the proximal phalanx of the fourth toe.


bone giant cell tumor

A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.


Abnormal circulating ceruloplasmin concentration

Any deviation of the concentration of ceruloplasmin in the blood from the normal range.


Dolichocephaly

An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.


Ectopic anterior pituitary gland

Abnormal anatomic location of the anterior pituitary gland.


Fibular hypoplasia

Underdevelopment of the fibula.


Increased urinary high-mannose-type oligosaccharide

An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.


Infantile sensorineural hearing impairment

A form of sensorineural hearing impairment with infantile onset.


Cervical cord compression

Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.


B Acute Lymphoblastic Leukemia

A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.


Activating thyroid-stimulating hormone receptor defect

Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.


Elevated circulating acetoacetic acid concentration

An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.


Juvenile gastrointestinal polyposis

The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.


Vestibular sensory seeking

Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.


Abnormal gonadotropin-releasing hormone concentration

A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).


Unlayered lissencephaly

A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.


Giant cell hepatitis

Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.


Mild intrauterine growth retardation

Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.


Abnormal nervous system electrophysiology

An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.


Difficulty walking backward

Reduced ability to walk (ambulate) in a backwards direction.


Bullet-shaped middle phalanx of the 3rd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.


Congenital thrombocytopenia

Thrombocytopenia with congenital onset.


Reduced circulating leukotriene C4 concentration

An abnormally decreased concentration of leukotriene C4 in the blood circulation.


Tracheobronchomalacia

Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


Hydropic placenta

An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.


Postductal coarctation of the aorta

Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.


Elevated circulating butyrylcarnitine concentration

Increased concentration of O-butyrylcarnitine in the blood circulation.


Abnormal cardiac MRI

Abnormal results of a MRI for the heart.


Perioral eczema

A type of eczema that occurs in the lips and perioral area.


Positive Romberg sign

The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.


Abnormal bulbus cordis morphology

Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.


Infection-associated lymphopenia

Decreased lymphocyte count during infections.


Severe albuminuria

The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).


Corner fracture of metaphysis

Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.


Elevated CSF glial fibrillary acidic protein concentration

Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.


Sclerosis of 5th finger phalanx

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


Placenta increta

Abnormal placental pentration into but not beyond the uterine wall.


Blistering by anatomical location

Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.


Femoroacetabular impingement

Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.


Abnormality of the epiphysis of the femoral head

Any abnormality of the proximal epiphysis of the femur.


Ivory epiphysis of the proximal phalanx of the 2nd finger


Hypolysinemia

A decreased amount of lysine in the blood.


Giant melanosomes in melanocytes

The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.


Increased neuronal autofluorescent lipopigment

Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Hypointensity of cerebral white matter on MRI

A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Focal lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.


Abnormal cerebellar peduncle morphology

An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.


Incomplete unilateral cleft lip

Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.


Hostility

Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.


Modic type III vertebral endplate changes

An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.


Persistent patent ductus venosus

Persistence of blood flow through the ductus venosus for longer than the normal time after birth.


Shawl scrotum

Superior margin of the scrotum superior to the base of the penis.


Elevated circulating 3-methylhistidine concentration

Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.


Parakeratosis

Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.


Ivory epiphyses of the 5th finger

Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Anti-Su antigen/argonaute 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.


Bullet-shaped middle phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.


Positive perchlorate discharge test

An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.


Abnormal platelet dense granule secretion

Abnormal release of dense granules from platelets.


Spinal meningeal diverticulum

An outpouching of the spinal meninges.


Anti-Kelch like protein 12 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.


Abnormality of the foot musculature

An anomaly of the musculature of foot.


Abnormality of the female genitalia

Abnormality of the female genital system.


Chronic colitis

A chronic inflammatory disease of the large intestine (colon, cecum and rectum).


Hypoglutamatemia

A decreased amount of glutamate in the blood.


schwannoma

A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.


Cutaneous abscess

A circumscribed area of pus or necrotic debris in the skin.


Curved 5th toe phalanx

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


Abnormal circulating free T4 concentration

A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.


Mesangial cell loss

Loss of mesangial cells segmentally or globally.


Subcortical dementia

A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.


Single-lobed right lung

A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.


Patchy reduction of bone mineral density

Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Perineal hypospadias

Hypospadias with location of the urethral meatus in the perineal region.


Abnormal blood glucose concentration

An abnormality of the concentration of glucose in the blood.


Red urine

An abnormal red color of the urine.


Abnormal CSF dopamine concentration

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


External genital hypoplasia

Underdevelopment of part or all of the external reproductive organs.


Coronary arteriovenous fistula

An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.


Small distal femoral epiphysis

Reduced size of the Distal epiphysis of femur.


Increased hemoglobin oxygen affinity

An abnormal increase in the binding affinity of hemoglobin for oxygen.


Glomerular lipoprotein thrombus

Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.


chondrodysplasia punctata

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.


Thin fingernail

Fingernail that appears thin when viewed on end.


Decreased urinary 1-methylhistidine

Decreased concentration of 1-methylhistidine in the urine.


Abnormal glomerular basement membrane texture

Anomalous appearance or structure of the surface of the glomerular basement membrane.


Overriding atrioventricular valve

An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.


Soft, doughy skin

A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.


Narrow internal auditory canal

Reduction in diameter of the internal auditory canal.


Open operculum

Underdevelopment of the operculum.


carotid body paraganglioma

A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.


The presence of autoantibodies in the serum that react to RNA-polymerase III.


Increased proportion of CD4-positive T cells

An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.


Abnormality of the epiphyses of the 4th finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.


Contracture of the proximal interphalangeal joint of the 4th finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Tissue ischemia

Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.


A type of ichthyosiform erythroderma with postnatal onset.


Increased circulating octadecanoate level

An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).


Ureteral agenesis

Failure of the ureter to undergo development.


Abnormal musculoskeletal physiology

An abnormality of the function of the skeletal system.


isolated cloverleaf skull syndrome

Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.


Mild global developmental delay

A mild delay in the achievement of motor or mental milestones in the domains of development of a child.


Focal motor seizure with negative myoclonus

A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.


Limb undergrowth

Limb shortening because of underdevelopment of one or more bones of the extremities.


posterior urethral valve

Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.


Late-onset proximal muscle weakness

Lack of strength of the proximal musculature occurring late in the clinical course.


Abnormal circulating isoleucine concentration

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


Focal pancreatic islet hyperplasia

Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.


Decreased methylcobalamin

Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.


Abnormal total iron binding capacity

Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.


Spastic paraplegia

Spasticity and weakness of the leg and hip muscles.


Recurrent loss of toenails and fingernails

Repeated loss, or shedding, of the nails of the fingers and toes.


Renal neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the kidney.


Absent epiphyses of the proximal phalanges of the hand


Abnormal rectum morphology

An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.


Irregularly spaced teeth

Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.


acroosteolysis

A condition that is characterized by degeneration of the distal phalanges.


Bipartite patella

A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.


Small epiphysis of the distal phalanx of the 2nd finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.


Partial duplication of the proximal phalanx of the 4th toe


Elevated urinary catecholamines

An increased concentration of catecholamine in the urine.


Interlobular vein intima/media amyloidosis

Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


Anti-complement component C1q antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.


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

Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.


Porphyrinuria

Abnormally increased excretion of porphyrins in the urine.


Focal aware motor seizure with negative myoclonus

A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.


Abnormal hepatic echogenicity

Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).


Curved phalanges of the 5th finger

Curved phalanges of the 5th (little) finger.


Functional abnormality of the bladder

Dysfunction of the urinary bladder.


Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection


EMG: myotonic runs

Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).


Caudal interpedicular narrowing

Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.


Limited wrist movement

An abnormal limitation of the mobility of the wrist.


Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.


Abnormal hepatocyte morphology

A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.


cystinuria

Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


Colonic varices

The presence of varices (enlarged and convoluted blood vessels) in the colon.


Hypoplastic pubic ramus

Underdevelopment of a ramus (branch) of the pubic bone.


Indeterminate ventricular axis

A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.


Abnormality of the epiphysis of the proximal phalanx of the 5th toe


Black pigment gallstones

A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.


Short distal phalanx of finger

Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.


Bowing of the arm

A bending or abnormal curvature affecting a long bone of the arm.


Adrenal hyperplasia

Enlargement of the adrenal gland.


Drug-induced anaphylaxis

A form of anaphylaxis that is triggered by intake of drugs or medications.


Absent epiphysis of the middle phalanx of the 2nd toe


Proximal upper limb amyotrophy

Muscular atrophy affecting proximally located muscles of the arms.


Perihilar segmental glomerulosclerosis

Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.


hemimegalencephaly

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.


Hypocapnia in cord blood

Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.


Streaky metaphyseal sclerosis

The presence of streaks (bands) of abnormally increased density of metaphyseal bone.


Abnormal B cell morphology

A structural abnormality of B cells.


Sclerosis of the distal phalanx of the 5th finger


Fractured epiphysis of fourth metacarpal bone

A partial or complete breakage of the epiphysis of fourth metacarpal bone.


camptodactyly of fingers

Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.


Fava bean-induced hemolytic anemia

A kind of hemolytic anemia that is induced by the ingestion of fava beans.


Multiple pulmonary interstitial hyalinized nodules

Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.


Glomerular karyhorrhectic debris

Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.


coronary aneurysm

Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.


Noncompaction cardiomyopathy

A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.


Tubularization of Bowman capsule

The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.


Serous pericardial effusion

Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.


Abnormal palmar dermatoglyphics

An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.


Prolonged bleeding following circumcision

Bleeding that persists for a longer than usual time following circumcision.


Bracket epiphyses of the 2nd finger

An abnormality 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.


Decreased attenuation pattern on pulmonary HRCT

Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.


Increased proteinogenic amino acid level in urine

An elevated level of a proteinogenic amino acid in the urine. 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.


Erythematous papule

A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.


Abnormal ventricular myocardium morphology

A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.


Abnormal parotid gland morphology

Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.


Fractured middle phalanx of manus

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


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


Contracture of thumb

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.


Fibrotic non-specific interstitial pneumonia

A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.


Osteolytic defects of the proximal phalanx of the 5th finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.


Congenital contracture

One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.


Impaired neutrophil chemotaxis

An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response


Elevated circulating L-alloisoleucine concentration

Abnormally increased concentration of L-alloisoleucine in the blood circulation.


Abnormal basophil count

Any deviation from the normal number of basophils per volume in the blood circulation.


Pseudoepiphysis of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.


palmoplantar keratosis

A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.


Abnormality of the tarsal bones

An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.


Small superior frontal cortex

Reduced size of the superior frontal portion of the cerebral cortex.


Abnormal diaphysis morphology

An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.


Intestinal fistula

An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.


Torn meniscus

A tear in the cartilaginous pad (meniscus) of the knee.


Podocyte microvillous transformation

Cytoplasmic projections into the urinary space from the luminal side of the podocyte.


Reduced CSF methionine concentration

Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.


Frontal cortical atrophy

Atrophy of the frontal cortex.


hidrocystoma

A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.


Anomalous hepatic venous drainage into the left atrium

An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.


melanoma, cutaneous malignant, susceptibility to, 2

Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)


Storage in hepatocytes

Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.


Sternal pit

A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.


Infra-aortic superior vena cava

The superior vena cava passes below the aortic arch.


Short proximal phalanx of the 3rd finger

Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.


Oligoclonal elevation of circulating IgA

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


Absent epiphysis of the distal phalanx of the 2nd toe


Abnormality of adrenal physiology

A functional abnormality of the adrenal glands.


Low plasma citrulline

A decreased concentration of citrulline in the blood.


Enlarged epiphyses of the proximal phalanges of the hand


Recurrent bronchitis

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


Mesomelic arm shortening

Shortening of the middle parts of the arm in relation to the upper and terminal segments.


Elevated circulating insulin:C-peptide ratio

Increased ratio of insulin to C-peptide in the blood circulation.


Complete duplication of the distal phalanx of the 4th finger

Complete duplication of the distal phalanx of ring finger.


Aortic stiffness

The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.


Focal undressing automatism seizure

A type of focal automatism seizure characterized by involuntary undressing at onset.


heroin dependence

Physical and psychological dependence on the drug heroin.


Abnormal CSF methionine concentration

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


Congenital malformation of the right heart

Defect or defects of the morphogenesis of the right heart identifiable at birth.


Generalized microdontia

A generalized form of microdontia.


Interrupted aortic arch type B

Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.


Agenesis of maxillary premolar

Agenesis of maxillary premolar.


Neurite dystrophy

Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.


Secondary Caesarian section

Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.


Fragmentation of the epiphyses of the phalanges of the hand

Fragmented appearance of the epiphyses of the phalanges of the fingers.


Oral synechia

Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.


Supraventricular tachycardia with an accessory connection mediated pathway

Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.


Abnormality of the proximal phalanx of the thumb

An anomaly of the shape or form of the proximal phalanx of the thumb.


Enlarged epiphysis of the proximal phalanx of the 3rd finger

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


Absent middle phalanx of 4th finger

Absence of the middle phalanx of the ring (4th) finger.


Digital ischemia

Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.


Feculent vomiting

Vomiting of material that is of fecal origin.


hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.


permanent congenital hypothyroidism

Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.


peripheral hypothyroidism

Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.


brain-lung-thyroid syndrome

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).


familial thyroid dyshormonogenesis

A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.


thyroid ectopia

Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Bamforth-Lazarus syndrome

Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.


thyroid dyshormonogenesis 5

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.


hypothyroidism due to deficient transcription factors involved in pituitary development or function

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.


resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha


athyreosis

Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


thyroid dyshormonogenesis 2A

Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.


thyroid hormone metabolism, abnormal 1

A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.


congenital nongoitrous hypothryoidism 6

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.


peripheral resistance to thyroid hormones

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


blepharophimosis - intellectual disability syndrome, SBBYS type

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.


syndromic hypothyroidism

A hypothyroidism that is part of a larger syndrome.


thyroid dyshormonogenesis 6

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.


thyroid hypoplasia

Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


hypothyroidism, congenital, nongoitrous, 7


Pendred syndrome

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.


Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.


thyroid dyshormonogenesis 3

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.


autoimmune polyendocrinopathy type 3

A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.


athyreotic congenital hypothyroidism

Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)


obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.


primary congenital hypothyroidism

Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


congenital nongoitrous hypothryoidism 3

A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.


X-linked central congenital hypothyroidism with late-onset testicular enlargement

An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.


thyroid dyshormonogenesis 4

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.


hypothyroidism due to TSH receptor mutations

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.


distal epiphysis of distal phalanx of pedal digit 4

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A distal epiphysis that is part of a distal phalanx of pedal digit 4.


epiphysis of distal phalanx of pes

An epiphysis that is part of a distal phalanx of pes.


distal epiphysis of distal phalanx of pedal digit 3

A distal epiphysis that is part of a distal phalanx of pedal digit 3.


distal epiphysis of distal phalanx of pedal digit 2

A distal epiphysis that is part of a distal phalanx of pedal digit 2.


distal epiphysis of distal phalanx of pedal digit


distal epiphysis of distal phalanx of pedal digit 5

A distal epiphysis that is part of a distal phalanx of pedal digit 5.


distal epiphysis of distal phalanx of pedal digit 1

A distal epiphysis that is part of a distal phalanx of pedal digit 1.


Factor XIII Inactivation

Presence of inactivating antibodies to factor XIII in the blood.


acquired factor XIII deficiency

An acquired coagulation disorder due to reduced levels and activity of factor XIII.


ERBB3-ERBB4 signaling pathway

biolink:Pathway biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:OntologyClass biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The series of molecular signals transmitted by a heterodimeric complex of the tyrosine kinase receptors ERBB3 and ERBB4. The pathway begins with binding of a ligand to either cell surface receptor, or the dimeric receptor complex, and ends with regulation of a downstream cellular process, e.g. transcription.


spinal intradural arachnoid cysts

Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.


intracranial arachoid cyst

A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.


negative regulation of cytoplasmic translational elongation through polyproline stretches

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation through polyproline stretches.


regulation of cytoplasmic translational elongation through polyproline stretches

Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation through polyproline stretches.


positive regulation of cytoplasmic translational elongation through polyproline stretches

Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation through polyproline stretches.


Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma

A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma.


negative regulation of plasmacytoid dendritic cell cytokine production

Any process that stops, prevents, or reduces the frequency, rate, or extent of plasmacytoid dendritic cell cytokine production.


retinitis pigmentosa 50

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.


distal trisomy 9q

Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.


Childhood Ovarian Mixed Germ Cell Tumor

A mixed germ cell tumor that arises from the ovary and occurs in children.


ovarian mixed germ cell neoplasm

An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.


negative regulation of neutrophil mediated killing of bacterium

Any process that decreases the frequency, rate or extent of the directed killing of a bacterium by a neutrophil.


negative regulation of neutrophil mediated killing of symbiont cell

Any process that decreases the frequency, rate or extent of the directed killing of a symbiont target cell by a neutrophil.


negative regulation of neutrophil mediated killing of fungus

Any process that decreases the frequency, rate or extent of the directed killing of a fungal cell by a neutrophil.


negative regulation of neutrophil mediated killing of gram-negative bacterium

Any process that decreases the frequency, rate or extent of the directed killing of a gram-negative bacterium by a neutrophil.


negative regulation of neutrophil mediated killing of gram-positive bacterium

Any process that decreases the frequency, rate or extent of the directed killing of a gram-positive bacterium by a neutrophil.


biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction chloride(in) + 2 hydrogencarbonate(out) + Na+(out) = chloride(out) + 2 hydrogencarbonate(in) + Na+(in).


hexose-phosphate:inorganic phosphate antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: hexose phosphate(out) + inorganic phosphate(in) = hexose phosphate(in) + inorganic phosphate(out).


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: phosphoenolpyruvate(out) + phosphate(in) = phosphoenolpyruvate(in) + phosphate(out).


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(in) + HCO3-(out) = chloride(out) + HCO3-(in).


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: triose-phosphate(out) + phosphate(in) = triose-phosphate(in) + phosphate(out).


organophosphate:inorganic phosphate antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: organophosphate(out) + inorganic phosphate(in) = organophosphate(in) + inorganic phosphate(out).


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(in) + sulfate(out) = chloride(out) + sulfate(in).


glucose 6-phosphate:inorganic phosphate antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glucose 6-phosphate(out) + inorganic phosphate(in) = glucose 6-phosphate(in) + inorganic phosphate(out).


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(out) + proton(in) = chloride(in) + proton(out).


glyceraldehyde 3-phosphate:inorganic phosphate antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glyceraldehyde 3-phosphate(out) + phosphate(in) = glyceraldehyde 3-phosphate(in) + phosphate(out).


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(out) + oxalate(in) = chloride(in) + oxalate(out).


glycerol-phosphate:inorganic phosphate antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glycerol phosphate(out) + inorganic phosphate(in) = glycerol phosphate(in) + inorganic phosphate(out).


glycerone phosphate:inorganic phosphate antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glycerone phosphate(out) + phosphate(in) = glycerone phosphate(in) + phosphate(out).


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: sulfate(out) + bicarbonate(in) = sulfate(in) + bicarbonate(out).


dicarboxylate:inorganic phosphate antiporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: dicarboxylate(out) + inorganic phosphate(in) = dicarboxylate(in) + inorganic phosphate(out).


Metastatic malignant neoplasm to pituitary gland

A malignant neoplasm metastasizing to the pituitary gland from another anatomic site.  The vast majority are carcinomas usually arising from the breast, lung, and gastrointestinal tract.


Metastatic Malignant Neoplasm in the Sellar Region

A malignant neoplasm that has metastasized to the sellar region from another anatomic site.


tRNA methylthiolation

The addition of a methylthioether group (-SCH3) to a nucleotide in a tRNA molecule.


cardiac muscle progenitor cell migration to the midline involved in heart field formation

The orderly movement of a myocardial progenitor cell toward the midline to form the heart field. Cardiac muscle progenitor cells are non-terminally differentiated, mesoderm-derived cells that are committed to differentiate into myocardial cells of the heart.


cardioblast migration to the midline involved in heart field formation

The orderly movement of a cardioblast toward the midline to form the heart field. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating.


endocardial progenitor cell migration to the midline involved in heart field formation

The orderly movement of an endocardial progenitor cell toward the midline to form the heart field. Cardiac muscle progenitor cells are non-terminally differentiated, mesoderm-derived cells that are committed to differentiate into endocardial cells of the heart.


Esophageal Dysphagia

Difficulty in swallowing due to an abnormality in the esophagus.


Stage IC Fallopian Tube Cancer AJCC v6 and v7

Stage IC includes: T1c, N0, M0.  T1c: Tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


metal-dependent deubiquitinase activity

An metal-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.


pharyngeal gland morphogenesis

The developmental process by which a pharyngeal gland is generated and organized.


adult salivary gland morphogenesis

The process in which the anatomical structures of the adult salivary gland are generated and organized.


salivary gland histolysis

The stage-specific break down of the larval salivary glands during Drosophila metamorphosis, to allow replacement of larval structures by tissues and structures that form the adult fly.


neurohypophysis morphogenesis

The process in which the anatomical structures of the neurohypophysis are generated and organized. The neurohypophysis is the part of the pituitary gland that secretes hormones involved in blood pressure regulation.


larval salivary gland morphogenesis

The process, occurring in the larva, by which the anatomical structures of the salivary gland are generated and organized.


seminal vesicle morphogenesis

The process in which the anatomical structures of a seminal vesicle are generated and organized.


sennetsu fever

A disease caused by infection with Neorickettsia sennetsu.


Anaplasmataceae infectious disease

Infections with bacteria of the family anaplasmataceae.


human monocytic ehrlichiosis

A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.


anaplasmosis

A disease or disorder caused by infection with Anaplasma.


human granulocytic ehrlichiosis

A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.


Neorickettsia infectious disease

A disease caused by infection with Neorickettsia.


ehrlichiosis

An disease or disorder caused by infection with Ehrlichia.


epicardium-derived cardiac vascular smooth muscle cell fate commitment

The commitment of an epicardial cell to a cardiac vascular smooth muscle cell fate and its capacity to differentiate into a cardiac vascular smooth muscle cell.


cardiac vascular smooth muscle cell fate commitment

The commitment of cells to a cardiac vascular smooth muscle cell fate and its capacity to differentiate into a cardiac vascular smooth muscle cell.


aleurone grain lumen

biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The volume enclosed by the membrane of an aleurone grain.


exocytic vesicle lumen

The volume enclosed by an exocytic vesicle.


COPII-coated vesicle lumen

The volume enclosed by the membrane of a COPII-coated endocytic vesicle.


Golgi-associated vesicle lumen

The volume enclosed by the membrane of a Golgi-associated vesicle.


acrosomal lumen

The volume enclosed within the acrosome membrane.


COPI-coated vesicle lumen

The volume enclosed by the membrane of a COPI-coated endocytic vesicle.


synaptic vesicle lumen

The volume enclosed by the synaptic vesicle membrane.


clathrin-sculpted acetylcholine transport vesicle lumen

The volume enclosed by the membrane of the clathrin-sculpted acetylcholine transport vesicle.


clathrin-sculpted monoamine transport vesicle lumen

The volume enclosed by the membrane of the clathrin-sculpted monoamine transport vesicle.


cytolytic granule lumen

Any cytoplasmic membrane-bounded vesicle lumen that is part of a cytolytic granule.


multivesicular body, internal vesicle lumen

The volume enclosed by the membrane of the multivesicular body internal vesicle.


plasma membrane-derived thylakoid lumen

The volume enclosed by a plasma membrane-derived thylakoid.


platelet dense granule lumen

The volume enclosed by the membrane of the platelet dense granule.


trans-Golgi network transport vesicle lumen

The volume enclosed within the membrane of a trans-Golgi network transport vesicle.


specific granule lumen

The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.


melanosome lumen

The volume enclosed by the melanosome membrane.


dense core granule lumen

The volume enclosed by the dense core granule membrane.


clathrin-sculpted glutamate transport vesicle lumen

The volume enclosed by the membrane of the clathrin-sculpted glutamate transport vesicle.


esterosome lumen

The volume enclosed by the membrane of an esterosome.


spine apparatus lumen

The volume enclosed by the spine apparatus membrane.


clathrin-sculpted gamma-aminobutyric acid transport vesicle lumen

The volume enclosed by the membrane of the clathrin-sculpted gamma-aminobutyric acid transport vesicle.


transport vesicle lumen

The volume enclosed within the membrane of a transport vesicle.


phagolysosome vesicle lumen

The volume enclosed by the membrane of a phagolysosome.


neuronal dense core vesicle lumen

The volume enclosed by a neuronal dense core vesicle membrane.


chromaffin granule lumen

The volume enclosed by the membrane of a chromaffin granule.


Lacrimal Gland Cyst

Swelling of the lacrimal duct due to excess fluid.


pyoureter

An abscess that is located in the ureter.


Refractory Fallopian Tube Clear Cell Adenocarcinoma

Fallopian tube clear cell adenocarcinoma that is resistant to treatment.


compound eye

A light sensing organ composed of ommatidia.


delta-carotene biosynthetic process

The chemical reactions and pathways resulting in the formation of delta-carotene.


response to 11-deoxycorticosterone

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 11-deoxycorticosterone stimulus.


response to aldosterone

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.


cellular response to 11-deoxycorticosterone

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 11-deoxycorticosterone stimulus.


cellular response to aldosterone

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.


Joubert syndrome 20

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.


endoplasmic reticulum-Golgi intermediate compartment (ERGIC) derived vesicle fusion with endoplasmic reticulum membrane

The joining of the lipid bilayer membrane around an ERGIC-derived vesicle to the lipid bilayer membrane of the ER. Such vesicles include COPI-coated transport vesicles involved in retrograde transport.


Catalysis of the reaction: ATP(4-) + H2O + a trans-keto-C61-meroacyl-[acp] <=> diphosphoric acid + a trans-keto-meroacyl-adenylate + a holo-[acyl-carrier protein].


vanadium-iron nitrogenase complex

An enzyme complex containing a vanadium-iron cluster found in some species, such as Azotobacter vinelandii. It is composed of two proteins, dinitrogenase and nitrogenase reductase; dinitrogenase, the vanadium-iron protein, is tetrameric with an alpha2-beta2 structure, and nitrogenase reductase is a homodimer.


propionyl-CoA metabolic process

The chemical reactions and pathways involving propionyl-CoA.


propionyl-CoA biosynthetic process

The chemical reactions and pathways resulting in the formation of propionyl-CoA.


propionyl-CoA catabolic process

The chemical reactions and pathways resulting in the breakdown of propionyl-CoA.


positive regulation of violaceol I biosynthetic process

Any process that activates or increases the frequency, rate or extent of violaceol I biosynthetic process.


ovarian solid teratoma

A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.


positive regulation of cellotriose transport

Any process that activates or increases the frequency, rate or extent of cellotriose transport.


familial temporal lobe epilepsy 4

A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.


small-subunit processome assembly

The aggregation, arrangement and bonding together of proteins and RNA molecules to form a small-subunit processome.


Cyanotic Body

Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body.


Neonatal acrocyanosis

Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn.


Cyanotic Limbs

Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs.


Locally Advanced Endometrial Carcinoma

Endometrial carcinoma that has spread to nearby tissues or lymph nodes.


Locally Advanced Endometrial Adenocarcinoma

Endometrial adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Locally Advanced Unresectable Endometrial Carcinoma

Endometrial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Endometrial Endometrioid Adenocarcinoma

Endometrial endometrioid adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IVB Thymoma AJCC v8

Stage IVB includes: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)