name: Burning pain, episodic, typically in the distal extremities, particularly the hands and feet (bilateral, symmetric), triggered by warm stimuli, exercise, standing


name: Reddish or purplish skin discoloration, episodic, associated with pain


name: Tumors appear most often on sun-exposed regions


name: Tumors undergo spontaneous resolution over a period of months


name: Tumors are morphologically similar to well-differentiated squamous cell carcinoma


name: Usually occurs in the head and neck area


name: Histology shows exterior zone of densely packed, small basophilic cells


name: Transitional zone of cells with gradual loss of nuclei


name: Proliferating cells show nuclear expression of lymphoid enhancer binding factor-1 (LEF1, 153245)


name: Mild irregularity of vertebral endplates


name: Blisters originating in basal cells above hemidesmosomes


name: Impaired keratin filament insertion into hemidesmosomes


name: Abnormal hemidesmosome intracellular attachment plates


name: Onychogryphosis of large toenails (occasional)


name: Sclerosis of posterior part of vertebrae (body and arches)


name: BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION


name: ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES


name: Galactosyltransferase I deficiency in fibroblasts


name: Uterine rupture associated with pregnancy


name: Skin changes worse in areas of lower skin temperature


name: Acrogeria (skin over hands and feet are thin and finely wrinkled)


name: Joint dislocation (hip, shoulder, elbow, knee, or clavicle)


name: Hyperpigmentation (knuckles, elbows, axillae, areolae, pubic area)


name: Focal alopecia to complete baldness (males)


name: Decreased cysteine and disulfide bonds in hair


name: EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED


name: Bulbar and upper limb symptoms more severe than lower limb symptoms


name: Rapid initial onset of symptoms (hours to weeks)


name: Onset may be triggered by emotional stress, fever, exercise, exposure to heat


name: Most patients remain stable or improve in years after the abrupt onset of symptoms


name: Transient mild dystonia may precede abrupt onset of disorder by several years


name: Cerebrospinal fluid may show decreased levels of homovanillic acid (HVA)


name: By 10-15 years after onset, postural dystonia spreads to all limbs


name: Postural tremor (later onset, spreads to all limbs and neck)


name: Torsion dystonia (involuntary sustained muscle contractions, twisting and repetitive movements, abnormal posturing)


name: Begins in limbs, later generalized (childhood onset)


name: Diffuse Lewy bodies throughout the brain (cortical and subcortical regions)


name: Hyperpigmented/hypopigmented macules (trunk, extremities, occasionally face)


name: Hyperpigmented/hypopigmented macules (dorsum hands and feet, face)


name: Thickening of the fascial structures of the palm and fingers


name: Shortening of the fascial structures of the palm and fingers


name: Contractures of the fingers (especially fifth finger)


name: High intensity area in white matter on head MRI


name: Normal extrarenal responses to dDAVP administration


name: Increased urinary cyclic AMP (cAMP) in response to dDAVP administration


name: Reticulate pigmentation (bulbar conjunctiva)


name: Reticulate hyperpigmentation (primarily trunk)


name: Nonscarring blisters (hand, feet, forearms)


name: Noncicatricial alopecia (scalp, eyebrows, axillary hair)


name: Amber-opalescent colored teeth (primary and secondary)


name: Marked attrition (primary and secondary)


name: Normal-to-enlarged pulp chamber (primary)


name: Tooth coloration normal to bluish/brownish/opalescent


name: Crescent/chevron-shaped pulp chambers (secondary teeth)


name: Degeneration of the dentatorubral and pallidoluysian systems


name: Recurrent subcortical infarcts (strokes)


name: Subcortical lacunar lesions seen early in disease


name: Vasculopathy of the small arteries penetrating the white matter


name: Affected arteries have electron-dense granular material close to vascular smooth muscle cell membranes


name: Erythrocyte delta-aminolevulinate dehydratase (ALAD) deficiency


name: Elevated urinary delta-aminolevulinic acid and porphyrins


name: Absent or decreased auditory brainstem responses


name: Circular constrictions of digits (pseudoainhum)


name: Starfish-like acral keratoses (knuckles)


name: Brown, warty keratotic papules (trunk, scalp, forehead, flexural areas)


name: Acrokeratosis verruciformis-like lesions on dorsum of hands


name: Acantholysis (cell separation) in the suprabasal layer of the epidermis with premature differentiation and hyperkeratinization of the epidermis


name: Loss of desmosomal attachments and perinuclear aggregation of keratin filaments


name: Fingernails involved more often than toenails


name: Longitudinal white or red subungual streaks


name: Decreased complex III activity in liver tissue


name: Decreased respiratory chain complex III activity in multiple tissues


name: Coagulation defect due to decreased liver function


name: Pathology includes spongiform changes, diffuse nerve cell degeneration and glial proliferation


name: Brain PrP-immunoreactive amyloid plaques


name: Characteristic periodic EEG complexes (only in sporadic and familial CJD, not in variant CJD)


name: Occasionally mild elevation of CSF protein


name: Tarsonavicular and calcaneonavicular fusion


name: Bony paranasal bossing (often regresses with age)


name: 'Erlenmeyer flask' deformity of distal femur (childhood)


name: Speckled corneal dystrophy (white flecks in corneal stroma)


name: Increased risk of seizures in childhood or adulthood


name: Absent CH50 activity in complete C4 deficiency


name: MLH1, EPIGENETICALLY SILENCED INHERITED, PROMOTER


name: Endplate irregularities (thoracic-lumbar vertebrae)


name: Anterior osteophytes (thoracic-lumbar vertebrae)


name: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE


name: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


name: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5


name: CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2


name: Abnormally large monocytes with vacuoles


name: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4


name: Platelets show impaired aggregation in response to ADP


name: Platelets fail to inhibit the rise of cAMP levels in response to ADP


name: Platelets may show reduced ADP binding activity


name: Platelets show normal ADP-induced shape change


name: Normal serum erythropoietin (EPO, 133170)


name: Seizures usually last less than 15 minutes


name: Seizures usually occur less than 3 times


name: Some patients may develop afebrile seizures later in life


name: Patients show normal psychomotor development


name: Cerebral atrophy, frontotemporal, progressive


name: Pseudobulbar symptoms (uncontrolled laughter, weeping)


name: Cortical atrophy with loss of pyramidal neurons in the motor cortex


name: Lateral corticospinal tracts show atrophy, pallor, and degeneration


name: Absence of lower motor neuron involvement


name: Glottic airway narrowing caused by laryngeal abductor paralysis


name: MRI imaging shows cavitation of the basal ganglia


name: Brain tissue shows cavitation of the basal ganglia


name: Brain tissue shows abnormal spherical aggregates of iron and ferritin in the basal ganglia, forebrain, and cerebellum


name: Muscle activity is electrically silent on EMG


name: Percussion-induced rapid rolling muscle contractions (PIRC)


name: Wasting of hand muscles often occurs early


name: Proximal limb muscles may be involved in severe cases


name: Decreased or absent distal sensory nerve action potential (SNAP)


name: 'Sloping' shoulders due to muscle atrophy


name: Respiratory failure due to intercostal muscle and diaphragm involvement


name: Glucosidase I deficiency in liver and fibroblasts


name: Normal isoelectric focusing of serum transferrin


name: Sural nerve biopsy shows loss of large myelinated fibers


name: BTNL2, IVS5AS, G-A, -1 (dbSNP rs2076530)


name: Burst suppression pattern on neonatal EEG


name: Elevated serum N,N-dimethylglycine (DMG)


name: Elevated urinary N,N-dimethylglycine (DMG)


name: Dimethylglycine dehydrogenase (DMGDH) deficiency


name: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2


name: Tubulofilamentous nuclear or cytoplasmic inclusions on biopsy


name: Elevated plasma citrulline (citrullinemia)


name: Elevated plasma methionine (methioninemia)


name: Elevated plasma galactose (galactosemia)


name: Mild-moderate fatigable weakness of limb muscles


name: Muscle biopsy shows type 2 fiber atrophy


name: Depigmented lesions of the retinal pigment epithelium


name: SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67


name: Night blindness beginning in the 6th decade


name: Punctate yellow-white sub-retinal pigment epithelium (RPE) lesions


name: Retinopathy may resemble retinitis pigmentosa


name: Subnormal focal ERG corresponding to punctate yellow-white sub-RPE lesions


name: Retinal pigment epithelium (RPE) thinning and photoreceptor loss correlate with thickness of sub-RPE deposits of lipid, esterified- and non-esterified cholesterol


name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME


name: Progressive high-frequency hearing loss (onset 20-30 years)


name: HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO


name: ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1


name: Alpha-synuclein immunoreactive neuronal and glial inclusions


name: Hearing loss, congenital sensorineural, moderate-severe


name: DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF


name: Psychomotor disturbances during acute psychotic outbursts


name: Cranial nerve palsies can arise with head and neck paragangliomas


name: Tremors subside over the first 2 to 3 months of life


name: Craniosynostosis (coronal and metopic suture)


name: Nevus flammeus (eyelids and nape of neck)


name: POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO


name: Increased threshold for electrical stimulation


name: Defective generation of somatic hypermutations (SHM)


name: Severely decreased motor nerve conduction velocity (NCV) (as low as 3 m/s)


name: Gluteus maximus and thigh adductors most affected


name: Muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy


name: Affected children are unable to sit without support


name: Normal motor conduction studies (initially)


name: Loss of lower alpha-motor neurons in the anterior horn of the spinal cord and lower brainstem


name: High flash visual evoked potentials (VEP)


name: Decreased or absent electroretinogram (ERG)


name: Organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)


name: Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)


name: Decreased retinal pigmentation with dispersion


name: Anterior beaking of lower thoracic and lumbar vertebrae


name: Beta-glucuronidase deficiency in fibroblasts and leukocytes


name: Coarse metachromatic granules in white blood cells


name: Chondroitin 4-, 6-sulfate excretion in urine


name: Arylsulfatase B deficiency in fibroblasts and white blood cells


name: N-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes


name: Keratan sulfate excretion in urine that decreases with age


name: Chondroitin 6-sulfate excretion in urine


name: Slowing mental development by 1.5 to 3 years of age


name: Metachromasia of white blood cells and fibroblasts


name: Acetyl CoA:alpha-glucosaminidase N-acetyltransferase deficiency in fibroblasts


name: Enzyme replacement therapy has not been effective


name: N-acetyl-alpha-D-glucosaminidase deficiency in fibroblasts


name: Slowing mental development by 1.5 to 3 years


name: Heparan N-sulfatase deficiency in fibroblasts and amniocytes


name: Slowly progressive neurologic deterioration


name: Delayed psychomotor development (stops at development levels of 1-2 years)


name: Skin fibroblasts contain cytoplasmic membrane-bound granular inclusions


name: Cytoplasmic lamellar concentric inclusions


name: Inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides


name: Increased serum beta-hexosaminidase (10-20x)


name: Increased serum iduronate sulfatase (10-20x)


name: Increased serum aryl-sulfatase A (10-20x)


name: Deceleration of linear growth during first year


name: Cortical bone erosion (especially proximal femora)


name: Normal to mildly increased mucopolysacchariduria


name: Increased serum arylsulfatase A (10-20x)


name: Inclusion bodies (membrane-bound vacuoles) in fibroblasts


name: Decreased activity of mitochondrial complex II (succinate dehydrogenase)


name: Lactic acidosis may occur with stress or infection


name: Electron microscopy shows increased and abnormal mitochondria


name: Normal IQ in infancy, then IQ drops with age


name: Mental retardation by the age of 7 years


name: Short stature, most below 3rd percentile for height


name: Relatively increased number of natural killer cells


name: Disproportionately small cerebral cortex


name: Ketosis is exacerbated by protein ingestion


name: Neonatal or infantile metabolic ketoacidosis


name: Type I - methemoglobin concentration 10-35%


name: NADH-cytochrome b(5) reductase deficiency


name: Metaphyseal irregularities (distal femora, proximal and distal tibiae, distal radii and ulnae)


name: Short stature, disproportionate (short lower limbs)


name: Increased malignancy risk, especially lymphoma and skin neoplasm


name: Joint hyperextensibility, especially hands, wrist, and feet


name: Short phalanges (especially distal phalanges)


name: Short long bones (rhizomelic shortening)


name: Distal femoral and proximal tibial cup-shaped epiphyses


name: Premature central epiphyso-metaphyseal fusion


name: Progression to tetraplegia and decerebrate state


name: Metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs


name: Decreased arylsulfatase A (ARSA) activity in urine, leukocytes, fibroblasts


name: Mental retardation, mild, some patients (IQ 70-80)


name: Tunica vaginalis inflammation (orchitis)


name: Transient painful erysipelas-like lesions on lower leg and ankle


name: Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele


name: Elevated plasma branched chain amino acids (leucine, isoleucine, valine)


name: Branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)


name: Decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes


name: Increased urinary disaccharides (mannosyl-N-acetylglucosamine)


name: Mental retardation from rapid mental regression


name: Nerve cells show ballooning with membrane-bound vesicles with reticulogranular pattern


name: Corticospinal tract disease in lower limbs (in adulthood)


name: Spinocerebellar tract disease in lower limbs (in adulthood)


name: White matter changes may occur (in adulthood)


name: Retinal degeneration in adult patients, progressive


name: Impaired smooth pursuit in adult patients


name: Abnormal vertebral bodies (ovoid, flat, beaked)


name: Increased urinary mannose-containing oligosaccharides


name: Decreased lysosomal alpha-mannosidase activity in plasma and leukocytes


name: Partial lipodystrophy (abnormal distribution of adipose tissue)


name: Normal or increased truncal adipose tissue


name: Skin atrophy (especially over hands and feet)


name: Mitochondrial malonyl-CoA decarboxylase activity in fibroblasts is very low


name: PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL


name: MILLER-DIEKER SYNDROME CHROMOSOME REGION


name: Failure of opercularization of the frontal and temporal lobes on CT


name: Cytogenetic deletion of chromosome 17p13.3


name: Fluorescence in situ hybridization specific probe for MDS critical region


name: Decreased lymphatic tissue (tonsil, thymus, mesenteric nodes, Peyer patches)


name: Decreased plasma HDL (<1/10 of normal levels)


name: Decreased lecithin:cholesterol acyltransferase mass and activity


name: Foam cells in bone marrow and renal glomeruli


name: Decreased levels of component X protein of the PDH complex


name: MRI shows globus pallidus signal abnormalities


name: Decreased activity of the E2 subunit (lipoyl transacetylase, 608770) of the PDH


name: Decreased levels of the E2 subunit protein


name: Decreased lactate clearance from muscle after exercise


name: Decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values


name: Hyperactive deep tendon reflexes in early stage


name: Abnormal brainstem auditory evoked potentials (BAEP)


name: Abnormal flash visual evoked potentials (VEP)


name: Elevated cerebrospinal fluid (CSF) protein


name: Galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts


name: Progressive cartilaginous ossification of pinnae


name: Abnormal cartilage ossification (nose, pinnae, larynx, epiglottis, trachea, bronchial rings, costochondral junctions)


name: Variable shortening of terminal phalanges (brachytelephalangy)


name: Cartilaginous ossification of trachea and bronchi


name: Premature tooth loss (both primary and secondary dentition)


name: Absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy


name: Hypoplasia and displacement of the corticospinal fibers within the brainstem


name: Thickening of the tubular basement membrane


name: End-stage renal disease develops in childhood


name: Cystic dilatation of cochlea and vestibulum


name: Extension of lateral hairline onto forehead


name: Feeding refusal, especially aversion to protein


name: Deficiency of mitochondrial isovaleryl-CoA dehydrogenase in fibroblasts


name: Normal axonal flare response after intradermal histamine injection


name: Elevated thyroid stimulating hormone (TSH)


name: Perihilar mesangial deposition of proteinaceous material


name: Decreased CD4+ and CD3+/CD4+ lymphocytes


name: Variable mental retardation ranging from severe neurodegeneration to mild mental retardation


name: Head circumference below the third percentile


name: Recurrent bacterial, viral, and fungal infections


name: Increased intestinal absorption of phosphate and calcium (normal response to increased serum 1,25-dihydroxyvitamin D3)


name: Decreased or low-normal serum parathyroid hormone (PTH)


name: Premature deciduous tooth loss (less than five years of age)


name: Elevated plasma and urine inorganic pyrophosphate (PPi)


name: Stillborn or infantile death usual in prenatal form


name: Decreased tissue and serum alkaline phosphatase


name: Elevated serum phosphate in heterozygotes


name: Low serum alkaline phosphatase in heterozygotes


name: Mildly elevated phosphoethanolamine urinary excretion in heterozygotes


name: Lymph nodes show reactive follicular hyperplasia and non-caseating granulomas


name: Ovoid-shaped vertebral bodies (childhood)


name: Cuboid-shaped vertebral bodies (post-puberty)


name: Delta-1-pyrroline-5-carboxylate (P5C) levels increased in plasma


name: Delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine


name: Delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes


name: Reading comprehension on par with verbal abilities


name: Functional MRI (fMRI) shows increased activity in the left inferior frontal cortex


name: Increased activity in the left posterior superior temporal cortex


name: Increased activity in the right inferior temporal cortex


name: Nonvisualization of gallbladder (oral cholecystography)


name: Bromosulfophthalein test - secondary rise at 90 minutes


name: Hepatic carbamoylphosphate synthetase I deficiency


name: MRI shows subcortical leukoencephalopathy with cavitation


name: Neuropathologic examination shows extensive spongiosis and gliosis


name: Increased L-2-hydroxyglutaric acid in urine, serum, and CSF


name: Hydronephrosis (secondary to ureteral compression from hydrometrocolpos)


name: 'Key hole-shaped' deformity of base of skull (occipitoschisis)


name: Increased histidine in blood, urine, and CSF


name: Decreased urocanic acid in blood, urine, and skin cells


name: Decreased urocanic acid in stratum corneum


name: Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel


name: Absent enteric ganglia beginning at rectum and extending proximally by varying degrees


name: Normal activity of von Willebrand factor-cleaving protease


name: Hypertension (especially in atypical hemolytic-uremic syndrome (aHUS))


name: Stomach, jejunal, and ileal lymphangiectasis


name: Amelogenesis imperfecta (secondary teeth)


name: Axonal swelling or thickening in the CNS


name: Iron deposits in the globus pallidus, caudate, and substantia nigra


name: Skin atrophy (over nose and scalp sutural areas)


name: Hypotrichosis (especially scalp, eyebrows, and eyelashes)


name: Deficiency or absence of p67-phox protein (type II)


name: Deficiency or absence of p47-phox protein (type I)


name: Deficiency or absence of p91-phox (300481) protein


name: Deficiency or absence of p22-phox protein


name: Decreased fetal movement (in perinatal or congenital neuromuscular forms)


name: Polyhydramnios (in perinatal or congenital neuromuscular forms)


name: Fetal hydrops (in perinatal or congenital neuromuscular forms)


name: Liver biopsy shows diffuse interstitial fibrosis


name: Enlarged hepatocytes with periodic acid-Schiff-positive, diastase-resistant inclusions


name: Electron microscopy shows fibrillar aggregations typical of amylopectin


name: Amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)


name: Broad tissue deposition of amylopectin-like material


name: Deficiency of alpha-1,4-glucosidase (acid maltase)


name: Chronic inflammatory bowel disease (IBD)


name: T1 transport protein (Glucose-6-phosphate translocase) defect


name: Liver transaminases normal to slightly increased


name: Adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency


name: Decreased activity of 3-hydroxyacyl-CoA dehydrogenase in various tissues (liver, muscle, fibroblasts)


name: Some tissues may have normal levels of 3-hydroxyacyl-CoA dehydrogenase activity


name: Reduced platelet glycoprotein Ib complex


name: Normal platelet aggregation with ADP, collagen, epinephrine


name: Absent platelet agglutination in presence of ristocetin


name: Extrahepatic reticuloendothelial system spared


name: Decreased beta-glucosidase protein and activity


name: Supranuclear gaze palsy, horizontal (type IIIB)


name: Vertical ocular movements are usually preserved


name: Rapidly progressive brainstem degeneration


name: Brown accumulation of Gaucher cells at corneoscleral limbus


name: White deposits in corneal epithelium, anterior chamber angle, ciliary body, and pupillary margin


name: Increased risk for monoclonal gammopathy


name: Pseudoanodontia (failure of tooth eruption)


name: Amorphous hyaline substance (skin biopsy and visceral organs)


name: Widespread interstitial fibrosis (visceral organs)


name: Scalp hair present at birth, lost in early childhood and never regrows


name: Mild anterior beaking of lumbar vertebrae


name: Glomerular epithelial cytoplasmic vacuolization


name: Gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency


name: Ovarian failure due to hypergonadotropic hypogonadism


name: In untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria


name: UDP-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)


name: Progressive thickening of diploic spaces


name: Anterior beaking of thoracic and lumbar vertebrae


name: Abnormal motor and sensory nerve conduction


name: Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem


name: Low pyruvate carboxylase activity in liver and cultured fibroblasts


name: Hypoplastic flexion creases dorsum of hand


name: Absent/hypoplastic finger nails (thumb most severely affected)


name: Short metacarpals (especially first metacarpal)


name: Hypoplastic phalanges (especially middle and proximal)


name: Short metatarsals (especially first metatarsal)


name: Painful, fleshy papules or nodules (hands, scalp, ears, perinasal area)


name: Hyperkeratotic epithelium with rete ridges extending into the dermis


name: Irregular, flattened acetabula with medial spikes


name: Short, broad dumbbell-shaped tubular bones with irregular metaphyses


name: Prolonged prothrombin and partial thromboplastin times


name: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1


name: Insulin-dependent diabetes mellitus (onset in infancy)


name: Reabsorption of capital femoral epiphyses


name: Cone-shaped epiphyses (proximal phalanges)


name: Short stature (3rd-90th centile, infrequent finding)


name: Small humeral, distal radii, and ulnae epiphyses


name: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)


name: Blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes


name: Bilateral, symmetric intracerebral calcifications, especially in the basal ganglia and periventricular areas


name: No evidence of common prenatal infections


name: Increased serum alpha-interferon (IFNA1, 147660)


name: Normal with exception of upper-lip defect


name: Deciduous molars show abnormal morphology


name: Deciduous dentition shows enamel attrition


name: Collagen fibrils show hieroglyphic pattern


name: Decreased pulmonary function (secondary to chest deformity)


name: Respiratory insufficiency (secondary to chest deformity)


name: Cardiac failure (secondary to chest deformity)


name: Absent pro alpha 2(I) chain synthesis (fibroblasts)


name: Eyelid margin cysts (apocrine hidrocystoma)


name: Prominent vasculature (nose and forehead)


name: Chondroosseous morphology notable for short, irregular chondrocyte columns, large, unfused calcospherites, perichondral bone overgrowth and patchy, mucoid degeneration of resting cartilage


name: Decreased pain and temperature perception


name: Decreased myelinated and unmyelinated small fibers


name: Decreased neurons in spinal sympathetic ganglia


name: Decreased neurons in dorsal root ganglia


name: Pupillary contraction in response to methacholine


name: Decreased or absent lingual fungiform papillae


name: Absent axonal flare response after intradermal histamine injection


name: Increased sensitivity to adrenergic and cholinergic agents


name: Postural hypotension without compensatory tachycardia


name: Severe psychomotor retardation (IQ 35-65)


name: Calvarial thickening (parietal and occipital regions)


name: Hyperpneumatization of paranasal sinuses


name: DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF


name: Seizures may occur during hypotensive episodes


name: Impaired ejaculation due to impaired sympathetic activity


name: Delayed eye opening as a neonate (up to 2 weeks)


name: Undetectable norepinephrine (noradrenaline) in plasma, urine, CSF


name: Undetectable epinephrine (adrenaline) in plasma, urine, CSF


name: Greatly increased dopamine in plasma, urine, CSF (approximately 10-fold increase)


name: Increased plasma dihydroxyphenylacetic acid (DOPAC)


name: Stimulation of sympathetic fibers results in release of dopamine, not norepinephrine


name: Undetectable dopamine beta-hydroxylase (DBH) protein in plasma, CSF, or sympathetic fibers


name: Orthostatic hypotension, severe, recurrent


name: Decreased-absent intestinal mucosa lactase activity


name: Normal maltase, isomaltase, and sucrase activity


name: Decreased dihydroxyacetonephosphate acyltransferase (DHAP-AT) activity


name: Mean birth length 42cm, specific growth curve available


name: Short, thick tubular bone, with broad metaphyses and flattened, irregular epiphyses


name: Arthralgia (hands, feet, ankles, and knees)


name: Recurrent skin ulcerations (face, trunk, limbs)


name: Corneal dystrophy (onset early in childhood)


name: Defective, irregular tarsal ossification


name: Skin nodules - fingers, elbows, nose, ears (onset infancy-childhood)


name: Dementia, presenile, progressive, beginning around age 30 years


name: Neuropathologic examination shows severe demyelination


name: Pain and swelling in ankles and wrists after stress or injury beginning around age 20 years


name: Bone cysts filled with necrotic, fatty material


name: DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF


name: Liver biopsy shows increased lipid droplets (microvesicular steatosis)


name: Decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle


name: Renal calculi (urate and calcium oxalate)


name: Light skin pigmentation compared to unaffected sibs


name: Light hair pigmentation compared to unaffected sibs


name: Female decreased fertility due to thickened cervical secretions and chronic lung disease


name: High newborn serum levels of immunoreactive trypsinogen


name: Absence of hepatic UDP-glucuronyl-transferase


name: Craniosynostosis (metopic, sagittal, lambdoid)


name: Craniosynostosis (coronal, metopic, lambdoidal)


name: Absent carpals, metacarpals, and phalanges


name: Obliteration of paranasal sinuses and mastoid


name: Nasal obstruction leading to mouth breathing


name: 'Key-hole' iris, retina, choroid coloboma


name: Rhizomelic limb shortening (especially arms)


name: Papillomas (perioral, nasal, and anal regions)


name: Flexion deformity of fifth finger distal interphalangeal joint


name: Abnormal myelination in sural nerve biopsies


name: Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination


name: Telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips)


name: Arterial aneurysm of celiac and mesenteric vessels


name: Spontaneous, recurrent epistaxis (onset childhood)


name: CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA


name: Seizure including seizure-like activity in utero starting around 18 weeks gestation


name: Dysplastic C-shaped inferior olivary nuclei


name: Cerebellar cell paucity, more marked in vermis than hemispheres


name: Quadrupedal gait (palm of hands, legs straight) with diagonal walking


name: Mental retardation, moderate (apparent by age 4 years)


name: Cataracts develop in second or third decade


name: Deafness, prelingual, profound (affects all frequencies)


name: Hearing loss, sensorineural, due to auditory neuropathy


name: Unusual upper limb position (elbow and wrist flexion)


name: Nevi flammei (philtrum, nape of neck, forehead)


name: Myoclonic seizures, frequent, long-lasting (many hours)


name: Ictal EEG with bisynchronous spike waves


name: Wave-like defects of tibial corticalis (alternating hyperostosis and thinning)


name: MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG


name: SLC12A6, 2-BP DEL, 1584CT AND 1-BP INS, 1584G


name: Small but structurally normal cerebral cortex


name: Deficiency of laminin alpha-2 chain of merosin (LAMA2, 156225) in muscle


name: CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1


name: CSF protein content increased or at upper limit of normal


name: Decreased motor nerve conduction velocity (NCV) (15-30 m/s)


name: Abnormal myelin folding consisting of globular masses of irregular myelin thickening


name: Normocytic pancytopenia following sulfa use


name: Gliosis, necrosis, neuronal loss in basal ganglia, brainstem, and spinal cord


name: Muscle biopsy shows decreased activity of cytochrome c oxidase


name: Increased urinary free sialic acid excretion (N-acetylneuraminic acid, 5-20x normal) Enlarged lysosomal vacuoles in lymphocytes and fibroblasts


name: Normal or decreased facial adipose tissue


name: Loss of subcutaneous adipose tissue from gluteal region


name: Some subcutaneous adipose tissue may remain on upper arms


name: Normal or increased abdominal adipose tissue


name: Normal or decreased facial and neck adipose tissue


name: Distal muscle weakness and atrophy (begins in lower limbs)


name: Upper limb weakness and atrophy occurs later


name: Decreased pain perception (sensory involvement)


name: Excessive sweating (autonomic involvement)


name: Eventration of the right or both hemidiaphragms


name: Intrauterine growth retardation (less than tenth percentile)


name: Ventilar dependence with inability to wean


name: Motor neuropathy beginning in lower limbs


name: Upper limb motor neuropathy occurs later


name: Bimaxillary dentoalveolar protrusion (protruding upper and lower front teeth)


name: Large subcortical cysts in frontal and temporal lobes


name: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS


name: VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO


name: Increased number of peripheral CD3+ T cells


name: Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells


name: Chronic-progressive course with episodes of rapid deterioration following fever or head trauma


name: White matter rarefaction and cystic degeneration


name: PHOX2B, 15- TO 27-BP DUP, ALANINE TRACT EXPANSION, NT721


name: CENTRAL HYPOVENTILATION SYNDROME, LATE-ONSET


name: High plasma citrulline (1000-5000 micromolar)


name: Hepatic argininosuccinate synthetase deficiency


name: Delay in secondary sexual characteristics


name: Absent-small capital femoral epiphyses (infancy-early childhood)


name: Platyspondyly with multiple extra ossification centers


name: Iliac apophysis, pubis and ischial punctate calcifications


name: Disappearance of stippling in first year of life


name: Deafness (sensorineural or mixed sensorineural and conductive)


name: Posterior choanal atresia (membranous and/or bony)


name: Markedly delayed nerve conduction velocities


name: Diffuse brain and spinal cord atrophy on brain CT/MRI


name: Pseudomembranous sloughing of buccal mucosa


name: Recurrent cutaneous and systemic pyogenic infections


name: Decreased neutrophil and monocyte migration and chemotaxis


name: Generalized lymphohistiocytic infiltrates in late phase


name: Giant inclusion bodies present in most granulated cells


name: Third ventricle subependymal focal gliosis


name: Stippled epiphyses (especially patellar and acetabular regions)


name: Decreased dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity


name: Elevated serum iron and iron binding capacity


name: Psychiatric symptoms (delusions, hallucinations)


name: MRI - diffuse or focal cerebral and cerebellar white matter disease


name: Tendon xanthomas (Achilles tendon, tibial tuberosity)


name: MRI of Achilles tendon shows diffuse enlargement of the tendon, multiple hypersignal areas in T(1)- and T(2)-weighted images


name: Normal to slightly elevated plasma cholesterol


name: Elevated urinary 7 alpha-hydroxylated bile alcohols


name: CT scan shows dense calcifications in the basal ganglia


name: Calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex


name: Neuropathologic examination shows calcification of the small brain vessels


name: Normal Ellsworth-Howard test, normal urinary cAMP response to parathyroid hormone (PTH) administration


name: Mildly decreased phosphaturic response to PTH administration has been reported in some cases


name: GlcNAc-transferase II deficiency in fibroblast and mononuclear cells


name: Decreased coagulation factors IX, XI, XII


name: Phosphomannomutase deficiency in leukocytes, fibroblasts, or liver


name: Bowed limbs (lower greater than upper limbs)


name: Immunoglobulin deficiency (IgA, IgG, IgM)


name: Impaired lymphocyte proliferation response to malignancy


name: High sister chromatid exchange (SCE) rate


name: Borderline small occipitofrontal head circumference (3rd-25th percentile)


name: Strabismus (specifically V-type esotropia)


name: Cholesterol biosynthesis severely depressed


name: Elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)


name: Macro- and microvesicular steatosis, acute


name: Urinary excretion of 3-methylcrotonylglycine, chronic


name: Urinary excretion of 3-hydroxyisovaleric acid, chronic


name: Secondary decrease of plasma free carnitine


name: Decreased activity of 3-methylcrotonyl-CoA carboxylase


name: Metabolic decompensation precipitated by illness


name: Intraepithelial infiltration by lymphocytes, macrophages, plasma cells


name: Absence of humoral and cellular immune response to foreign antigens


name: Mosy patients become wheelchair-bound after 10 years


name: Axonal sensory and motor peripheral neuropathy, severe


name: Nerve biopsy shows axonal degeneration and axonal sprouting


name: Increased levels of T cells bearing gamma/delta antigen receptor


name: Reduced levels of cells with IgM receptors


name: Increased levels of carcinoembryonic antigen


name: Reduced IgG levels, particularly IgG2 subclass


name: Early ossification of capital femoral epiphyses (infancy)


name: Flattening and anterior beaking of vertebral bodies


name: Little to absent aspartylglucosaminuria activity


name: Wide metaphyses (metacarpals and phalanges)


name: Flattened epiphyses (metacarpals and phalanges)


name: Wide metaphyses (metatarsals and phalanges)


name: Enlarged epiphyses (metatarsals and phalanges)


name: High plasma citrulline (100-300 micromolar)


name: Elevated CSF amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)


name: Decreased circulating apolipoprotein C-II concentration


name: Craniosynostosis, coronal and lambdoidal


name: Large follicles around developing teeth crowns


name: Decreased urinary calcium and phosphate excretion


name: Developmental regression after age 2 years


name: Increased urinary 2-methyl-3-hydroxybutyric acid


name: Increased urinary 2-methylacetoacetic acid


name: Psychomotor regression, episodic, often associated with common childhood infections


name: EEG shows slow frequency high amplitude waves with high frequency polyspikes


name: Decreased DNA polymerase-gamma (POLG, 174763) activity


name: Ochronotic pigmentation of fibrous tissues including cartilage, tendons, ligaments


name: Increased plasma homogentisic acid (HGA)


name: Decreased liver homogentisate 1,2-dioxygenase activity


name: Diffuse demyelination (increased signal intensity in T2-weighted images, especially frontal lobes)


name: Presence of Rosenthal fibers (eosinophilic bodies near astrocyte filaments)


name: Presence of Rosenthal fibers (cytoplasmic inclusions) in astrocytes


name: Presence of glial fibrillary acidic proteins (GFAP) in astrocytes


name: Increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-OHB)


name: Elevated serum parathyroid hormone (PTH) level


name: Normal or increased urinary cyclic AMP response to PTH administration


name: Lifelong reduced visual acuity, legal blindness to low vision


name: Normal prothrombin and partial chromoplastin times


name: Hair bulbs will pigment when incubated with tyrosine


name: Hyperpigmentation associated with increased adrenocorticotropic hormone (ACTH)


name: Blunted cortisol response to adrenocorticotropic hormone (ACTH)


name: Muscle weakness associated with fasting or infection


name: Myopathic episodes triggered by exercise, fasting, infection, cold temperatures


name: Decreased very long-chain acyl-CoA dehydrogenase protein and activity


name: Increased serum creatine kinase in patients with muscle involvement


name: Developmental delay if undiagnosed or untreated


name: Absent to trace urine and plasma ketones


name: Impaired sensation in distal extremities (pain, temperature, position, touch)


name: Sural nerve biopsy shows severe loss of myelinated fibers


name: Absence of cutaneous sensory receptors and fibers


name: Autonomic involvement does not always occur


name: Decreased axonal flare response after intradermal histamine injection


name: Delayed secondary sexual characteristics in males


name: Bullous, pustular dermatitis of extremities, oral, anal, and genital areas


name: Craniosynostosis (coronal, sagittal, lambdoid sutures)


name: Limb reduction, especially distally (acromesomelia)


name: Rudimentary phalanges (distal phalanges present)


name: Enlarged calvaria with normal ossification


name: Non-ossified sacrum, ischial, and pubic bones


name: Small iliac wings with concave inferior and medial margin


name: Cervical and upper thoracic pedicles ossified


name: Wedged-shape femur with proximal metaphyseal spike


name: Poor visual-motor integration (Range 41-80)


name: Sensorineural hearing loss, mild to moderate


name: Abnormal brain auditory evoked responses (BAER)


name: Decreased or absent ipsilateral acoustic reflex response to maximum stimulation


name: Thickened skin over flexor surface of proximal phalanges


name: Cervical papillomatosis with cervical dysplasia


name: Chronic human papillomavirus (HPV) infection


name: Myelokathexis (retention of neutrophils in the bone marrow)


name: Hypermature neutrophils have condensed nuclei connected by long, stringy filaments and vacuolated cytoplasm


name: Irregular, small, or absent incisors (permanent teeth)


name: Heterochromia iridis (complete or partial)


name: Aplasia of posterior semicircular canal on CT scan


name: Bilateral papillary cystadenoma of the epididymis


name: Bilateral papillary cystadenomas of the broad ligament


name: Hemangioblastoma, sporadic cerebellar (e.g., 193300.0007)


name: Lower limb deformities (childhood-onset)


name: Inappropriately normal serum 1,25-dihydroxyvitamin D3


name: Vertigo, episodic (onset in second or third decade)


name: Vestibulopathy, bilateral, progressive (onset in fourth or fifth decade)


name: Vertical orientation of the talus with rigid dorsal dislocation of the navicular bone


name: Distal aspect of the talus is projected plantarly


name: Contracture of the soft tissues of the hind- and mid-foot


name: A subset of patients may develop cavo-varus deformity in adolescence


name: Decreased nasopharyngeal lymphoid tissue


name: Frequent infections T-lymphocyte dysfunction, rare


name: UGT1A1, 2-BP INS, TA, TATAA ELEMENT, PROMOTER


name: Enchondromata (cartilaginous tumor growing from interior of bone)


name: Ecchondromata (cartilaginous tumor projecting under periosteum)


name: Premature closure of the capital femoral epiphyses


name: NTRK1, GLN9TER, HIS598TYR, AND GLY607VAL


name: HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA, SUSCEPTIBILITY TO


name: MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO


name: Intracranial calcification by x-ray or CT


name: Increased frequency of premature centromere disjunction (PCD) in cultured fibroblasts, esp. chromosome 3


name: TRIIODOTHYRONINE RECEPTOR AUXILIARY PROTEIN


name: Cone-shaped epiphyses of middle and proximal phalanges (2nd, 3rd, 4th fingers)


name: Eburnated epiphyses of distal phalanges (2-4-5)


name: Increased bone density, mild-moderate (skull, spine, long bones)


name: Tremor, action (arms, tongue, head, legs and trunk)


name: Tremor, postural (arms, tongue, head, legs and trunk)


name: Partial to total absence of permanent teeth


name: Toenails often more affected than fingernails


name: 85-90% DGS patients have deletion of 22q11.2


name: Other cytogenic abnormalities have been associated with DGS phenotype including monosomy 10p13, 11p13, and 4q21


name: Giant platelet alpha granules (peripheral blood)


name: Increased micromegakaryocytes (bone marrow)


name: Increased megakaryocyte colony forming units (CFU-MK)


name: Severe cloverleaf skull (Kleeblattschaedel)


name: Profound mental retardation and hypotonia in survivors


name: Marked shortness and bowing of long bones


name: TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546


name: TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13


name: GI hemorrhage (onset usually in 5th -6th decade)


name: TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142


name: Small, red lesion, may increase in size with age


name: Variable number of lesions (1 to greater than 10)


name: Dilatation of the small vessels in the upper part of the dermis


name: Usually venules, but can also be capillaries and arterioles


name: Stiff 5th proximal interphalangeal (PIP) joint (birth)


name: Enlarged, poorly modeled metaphyses (distal humeri, proximal radii, and proximal ulnae)


name: Hypoplastic spinal processes (cervical vertebrae)


name: Absence of skin creases over proximal interphalangeal (PIP) joints


name: Absence of skin creases over distal interphalangeal (DIP) joints


name: Partial or complete duplication of digit in syndactylous web


name: Proximal interphalangeal (PIP) joint synostoses


name: Distal interphalangeal (DIP) joint synostoses (occasional)


name: Proximal symphalangism (2nd-5th fingers)


name: Forth digit hypophalangism (absence of distal phalanx)


name: Muscle stiffness and rigidity, chronic, fluctuating


name: Limb muscle stiffness is often asymmetric


name: Lumbar paraspinal rigidity causes exaggerated lumbar lordosis


name: Heightened sensitivity to external stimuli


name: EMG shows involuntary continuous motor activity at rest


name: Autonomic features may occur (diaphoresis, tachycardia, hyperthermia, hypertension)


name: Paraneoplastic SPS is associated with breast cancer and other malignancies


name: Paraneoplastic SPS is associated with autoantibodies to amphiphysin (AMPH, 600418)


name: Associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo)


name: Associated with autoantibodies to GAD65 (anti-glutamic acid decarboxylase GAD2, 138275) in serum and/or cerebrospinal fluid


name: Approximately 60% of patients have anti-GAD65 antibodies


name: Broad femoral head with short femoral neck


name: Short middle phalanges of second and fifth fingers


name: Nonsyndromic cleft lip with or without cleft palate


name: Involuntary movements of extremities, neck, trunk, and/or face


name: Episodes may last less than 30 minutes or greater than several hours


name: Episodes typically occur several times a week


name: Severity of symptoms peak in the second decade and do not progress


name: Polyarticular chondrocalcinosis (cartilage calcification)


name: Symmetric, hard, painless, swelling of the jaw region


name: Loss of bone and replacement by fibrous tissue restricted to jaw


name: Multilocular radiolucencies in the jaw bones


name: Histology shows multiple osteoclast-like cells in a fibrous and cellular stroma


name: Myelin outfoldings may occur in a subset of patients


name: Fusion of cervical vertebrae, most often C2-3


name: Length at or greater than 97th percentile through early adolescence


name: Birth length often more increased than weight


name: Disharmonic maturation of phalanges and carpal bones


name: Degeneration of Purkinje cells in the cerebellum


name: Hearing loss, late-onset sensorineural, mild-to moderate


name: EEG shows unilateral centrotemporal spikes


name: Type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria


name: Cores contain densely packed myofilaments


name: Changes in sarcoplasmic reticulum and t-tubules


name: Increased internal nuclei in skeletal muscle fibers


name: Recurrent staphylococcal and gram-negative infections


name: Poor adhesion related functions, such as adhesion to endothelial cells, chemotaxis, and antibody-dependent cellular cytotoxicity


name: Low levels of CD11/CD18 (LFA-1 or leukocyte function antigen-1) glycoprotein


name: Leukocytosis with predominant granulocytosis (20,000-100,000 /mm3) common


name: Intracranial thin-walled sinusoidal vessel (cavernous) malformations


name: MRI is best imaging modality to detect lesions


name: Hyperkeratotic cutaneous vascular lesions


name: Increased urinary catecholamines (with pheochromocytoma)


name: Often integrated HBV sequences in hepatocellular carcinomas


name: Hypoplastic, poorly ossified cervical vertebrae


name: No evidence of intrauterine or perinatal infection


name: Mastoid hypoplasia with absence of air cells


name: Hemangiomatous branchial clefts (extend along sternocleidomastoid muscle)


name: BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO


name: Limited flexion in distal interphalangeal joints


name: Disproportionate shortening of 2nd and 3rd fingers


name: Hypersegmentation of proximal and middle 2nd, 3rd phalanges


name: Hypoplastic/aplastic distal phalanges (fingers 2-5)


name: Hypoplastic middle phalanges (fingers 2-5)


name: Short, broad laterally deviated halluces


name: Concave nails (4th-5th fingers and toes)


name: Canities prematura (premature whitening of hair, onset 6-23 years)


name: Multiple, red-blue, soft, compressible vascular papules or macules (especially on trunk or upper arms)


name: RHCE, CYS16TRP, ILE60LEU, SER68ASN, AND SER103PRO


name: BETA-ADRENERGIC STIMULATION, RESPONSE TO


name: Lateral displacement of the inner canthi


name: Loss of neurons and gliosis in basal ganglia, cranial nerve nuclei, and spinal cord


name: Rounded iliac bones with shortened sacrosciatic notches


name: Club-shaped humeri with early proximal epiphyseal ossification


name: Short humeri with proximal clubbing and distal tapering


name: Short femora with proximal clubbing and distal tapering


name: Poor ossifications of metacarpal and proximal, middle phalanges


name: Giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage


name: Interictal dystonia may occur later in disease course


name: Interictal ataxia may occur later in disease course


name: Ocular abnormalities often persist between attacks


name: NAT1, NAT1 POLYADENYLATION SIGNAL VARIANT


name: Decreased muscle mass (especially in lower limbs)


name: APOA4, 12-BP INS, GLU-GLN-GLN-GLN INS, CODONS 361-362


name: Abnormal liver function tests (SGOT, SGPT)


name: Hepatic intracellular inclusions in ZZ homozygotes


name: Infantile liver abnormalities in <20% with deficiency


name: Type I, classic, decreased antithrombin III levels


name: Type II, normal antithrombin III level but decreased activity


name: Recurrent thrombophlebitis (e.g. homozygous 107300.0008 AT-III TOYAMA)


name: Peter's anomaly (congenital anomaly of the anterior segment)


name: ANGIOTENSIN I-CONVERTING ENZYME, PLASMA LEVEL OF


name: ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE


name: Characteristic arm position with wrist and elbow flexion


name: Characteristic electroencephalogram (EEG) discharges


name: Attraction to/fascination with water, crinkly items (paper, plastic)


name: Bulbar dysfunction (e.g. dysarthria and dysphagia)


name: Pseudobulbar palsy (e.g. involuntary weeping or laughter)


name: Pathologic changes in anterior horn cells and lateral corticospinal tracts


name: Reduced cytosolic superoxide dismutase-1 (SOD1)


name: Abnormally low cerebrospinal fluid cystatin C


name: Xerosis (buttocks, extensor surfaces of extremities)


name: Neurofibrillary tangles composed of disordered microtubules


name: Autonomic involvement affecting limbs during episodes


name: Generalized tonic-clonic seizures in 50%


name: Neurologic regression after prolonged episodes


name: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF


name: Decreased serum alpha-2 macroglobulin levels


name: Hypertension (suppressible by glucocorticoid treatment)


name: Elevated serum parathyroid hormone (PTH)


name: Short metacarpals (especially 4th and 5th)


name: Short metatarsals (especially 4th and 5th)


name: Bilateral congenital profound sensorineural hearing loss


name: Premature loss of secondary teeth (<25 years)


name: Frequent fungal, viral, and opportunistic infections


name: Reduced erythrocyte adenosine deaminase activity


name: Elevated serum levels of 2-prime deoxyadenosine


name: APRT deficiency measured in erythrocyte lysate


name: 2,8-dihydroxyadenine (DHA) urinary stones


name: Associated with paresthesias and dysesthesias


name: Symptoms are exacerbated during pregnancy


name: Results in nocturnal insomnia and chronic sleep deprivation


name: Decreased iron content in the substantia nigra


name: Decreased CSF ferritin despite normal serum ferritin levels


name: Increased CSF transferrin despite normal serum transferrin levels


name: Brachymelic dwarfism (upper limbs greater than lower limbs)


name: Growth retardation, mild to moderate, prenatal onset


name: Epiphyseal stippling in neonates (lumbosacral and cervical bodies, carpus, tarsus, proximal humerus, terminal phalanges, knees, hips)


name: Craniosynostosis (coronal with or without sagittal suture)


name: Craniosynostosis of coronal, lambdoid, and/or metopic sutures


name: Intracranial hypertension due to multisutural cranial fusion


name: Deceleration of linear growth during childhood


name: Cervical vertebrae fusion, usually at C5 to C6


name: Fusion of carpal bones, especially capitate and hamate


name: Hypotonia in infancy and early childhood


name: Recurrent otitis media in infancy and childhood


name: Exaggerated lumbar lordosis during childhood and adulthood


name: Congenital spinal stenosis due to short pedicles, especially lumbar


name: Progressive interpediculate narrowing in lumbar spine


name: Dilated scalp veins radiating from periphery of scalp defect


name: Single-multiple round-oval areas of alopecia in parietal area


name: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY


name: Enamel hypoplasia (amelogenesis imperfecta)


name: Low-grade neuroendocrine carcinoma (submandibular glands, salivary glands, maxillary sinus, nasal cavity)


name: Hearing loss, high-frequency (onset in childhood-adolescence)


name: Deafness, moderate-severe (onset in third decade)


name: Increased frequency of bacterial, viral, and fungal infections


name: Lymph node architecture severely altered: lack of follicles, depletion of lymphocytes, and increased proportion of interdigitating reticular cells and eosinophils


name: Variable (often increased) number of activated CD45RO+, DR+ circulating T cells


name: Poor proliferative response of T lymphocytes to specific antigens


name: Hypoplastic thymus which often lacks Hassal corpuscles


name: Small flattened capital femoral epiphyses


name: Large joint dislocations (especially knees)


name: Irregular, flared metaphyses with streaky sclerosis


name: Long, slender middle and proximal phalanges


name: Severe delay in phalangeal epiphyseal bone maturation


name: THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC


name: Fibrillary plaques in the cerebellar cortex


name: Dermatitis (chronic or chronically relapsing, major feature)


name: Flexural lichenification in adults (major feature)


name: Facial or extensor involvement in infants and children (major feature)


name: Hand dermatitis (non-allergic, irritant)


name: Cutaneous infections (Staphylococcus aureus, herpes simplex)


name: Hypodensity of cerebral white matter seen on MRI


name: Decreased activity of thymidine phosphorylase


name: Elevated circulating thymidine concentration


name: Generalized weakness due to defect at the neuromuscular junction


name: Multiple CMAP response to single nerve stimulation


name: Muscle biopsy shows endplate myopathy (see details under NEUROLOGIC heading)


name: SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1


name: Progressive shortening of humerus in first year


name: Progressive shortening of radius in first year


name: Progressive shortening of ulna in first year


name: Short, broad metacarpals (progressive shortening in first year)


name: Short, broad phalanges (progressive shortening in first year)


name: Hyaline plaques with absent oxidative activity


name: Amorphous granulofilamentous material associated with Z-discs


name: Plaques immunoreactive for desmin and alpha-beta-crystallin


name: Elevated follicle stimulating hormone (FSH)


name: Increased serum 18-hydroxycorticosterone (18-OHB)


name: Anterior chamber angle open with grade III-IV gonioscopy


name: Bilateral intraocular pressures greater than or equal to 22 mmHg


name: Vertical cup-to-disc ratio greater than or equal to 0.7


name: Some patients may show normal early development


name: Neuronal loss in the cerebrum and cerebellum


name: Granular osmiophilic cytoplasmic deposits in Schwann cells


name: Myelin-like lamellar structures in Schwann cells


name: Decrease or absence of cathepsin D (CTSD) protein immunostaining


name: Distal limb muscle atrophy due to peripheral neuropathy


name: Distal sensory loss of tactile and vibratory senses


name: Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation


name: Sural nerve biopsy shows occasional onion bulb formations


name: MRI shows fatty infiltration of affected muscles


name: Osteolysis of patellae (bone loss of posterior patella)


name: Osteolysis of scaphoids (bone loss and fragmentation of scaphoid)


name: Osteolysis of tali (bone loss and fragmentation of posterior talus)


name: Cysts occur less commonly on any part of the body where hair grows


name: Decreased short/branched-chain acyl-CoA dehydrogenase protein levels and enzyme activity


name: Mental deterioration beginning 2 to 5 years after onset of seizures


name: Intracellular granular material on ultrastructural analysis


name: Mental retardation due to repeated episodes of hypoglycemia


name: Elevated blood spot hydroxybutyryl carnitine


name: Elevated serum insulin-to-C-peptide ratio


name: Deafness, sensorineural, profound (prelingual onset)


name: Distal limb muscle weakness occurs later


name: Patchy sclerotic changes to the long bones


name: Serum alkaline phosphatase normal or mildly increased


name: Serum creatine kinase normal or mildly increased


name: LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1


name: Cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))


name: Cytogenetic breakpoints range from 10q23.3-q26.2


name: Pubic punctate calcification (stippling)


name: Distal ulnar epiphyseal calcifications (stippling)


name: Tubulointerstitial medullary cystic kidney disease


name: ANTIDEPRESSANT DRUG TREATMENT, ACCELERATED RESPONSE TO


name: Trident configuration of acetabular roof


name: Phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver


name: Accelerated skeletal maturation (bone age of 4 at birth)


name: Stimulation of the renin/angiotensin/aldosterone axis


name: Renal biopsy shows tubulointerstitial fibrosis


name: Cleft at the junction of the lobule and helix


name: Lobule may be separately from the rest of the external ear


name: Pre- and post-auricular skin or cartilaginous tags


name: Unusual aura symptoms include alien limb phenomenon, diplopia, apraxia, dysarthria, impaired hearing, vertigo


name: Diffuse brain swelling occurs during coma


name: Ictal EEG shows diffuse slow delta and theta activity


name: Ectopic ossification of posterior longitudinal spinal ligament (cervical and thoracic spine)


name: Increased serum C4 and C5 acylcarnitine esters


name: Very low lymphocyte proliferation in response to mitogens and alloantigens


name: Muscle weakness restricted to the upper limb


name: Muscle atrophy restricted to the upper limb


name: Dorsal and flexor muscles of the forearm are involved


name: Sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')


name: Symptoms are progressive for a few years, and then become stationary


name: A subset of patients develop bilateral weakness


name: A subset of patients have aggravation on cold exposure ('cold paresis')


name: EMG shows neurogenic changes consistent with denervation


name: MRI may show cervical spinal cord atrophy


name: Weakness of distal muscles (upper and lower limb)


name: Corticospinal tracts with decreased myelin staining


name: HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO


name: HR, 1-BP DEL, 1256C AND 21-BP DEL, NT1261


name: Partial cutaneous syndactyly (2-3 fingers)


name: Prominent veins (especially over scalp and limbs)


name: CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3


name: Schmorl nodule appearance (thoracolumbar vertebrae, adults)


name: Small flattened epiphyses (proximal femur)


name: Rhizomelic shortening (especially lower limbs)


name: Metaphyseal flaring (distal femora, proximal tibiae and fibulae, distal tibiae, distal radii and ulnae)


name: Metaphyseal cupping (proximal tibiae and fibulae, distal ulnae)


name: Enlarged, hyperechogenic kidneys (ultrasound)


name: Absence of corticomedullary differentiation (ultrasound)


name: Discrepancy between verbal and nonverbal abilities


name: Inability to generate syntactic grammar rules (i.e., tense, gender, number)


name: Orofacial dyspraxia, linguistic and nonlinguistic


name: Brain imaging shows functional defects in the cortical and subcortical motor-related areas of the frontal lobe


name: Structural abnormalities in the basal ganglia (especially caudate)


name: Mixed regions of osteosclerosis and osteolysis


name: Abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan


name: Eyes fixed in extreme abduction (exotropia strabismus fixus)


name: Involuntary movements may be precipitated by exertion or anxiety


name: Irregular diameter of hair shaft with hypopigmentation and tendency to fracture (light microscopy)


name: Distal muscle weakness in lower limbs, severe


name: Proximal and distal muscle atrophy in lower limbs


name: Difficulty walking on heels occurs prior to difficulty walking on toes


name: Progression to wheelchair in fourth decade


name: Creatine kinase levels may normalize with disease progression


name: Cardiac muscle is involved in a subset of patients


name: Acanthosis with hypergranulosis and hyperkeratosis in affected skin


name: Mild superficial perivascular lymphohistiocytic infiltrates


name: Numerous large keratohyaline granules in superficial keratinocytes


name: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1


name: Agenesis or hypogenesis of the cerebellar vermis


name: Fusion of the dentate nuclei and the superior cerebellar peduncles


name: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


name: Poor differentiation of gray and white matter on T2-weighted MRI


name: Atopic disorders (eczema, food allergy, asthma)


name: Interstitial or terminal deletion of 18q


name: Highly variable phenotype, even within families


name: Hypertonia (older children and adolescents)


name: Contractures (older children and adolescents)


name: Mosaic tetrasomy 12p in skin fibroblasts


name: Isochromosome often missing in lymphocyte


name: Neurophysiologic abnormalities (EEG, SEP, VEP)


name: LEPTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


name: Hypoplastic or absent interphalangeal creases


name: Oligodontia (reduced number of molars and premolars)


name: Wide gap between upper and lower central incisors


name: Small, flat irregularly ossified epiphyses


name: Pseudoepiphyses (1st and 5th metacarpals)


name: GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC


name: Large cytoplasmic Schwann cell extensions around axons


name: Multiple, asymptomatic dermal cysts (trunk, proximal extremities, neck, axillae, inguinal region, scalp)


name: 'Banana peel' configuration of distal radius


name: Abnormal electrophoretic mobility of type II collagen


name: Severe metaphyseal changes of long bones


name: Metaphyseal irregularity and sclerosis (childhood)


name: Dappled metaphyses (proximal femora, proximal humeri, distal radii, distal ulnae, and proximal and distal tibiae and fibulae)


name: Dappling greater in ulna than radius and fibula greater than tibia


name: Diminished joint mobility at elbows, knees, and hips


name: Rhizomelic (upper extremities greater than lower extremities)


name: Metaphyseal flaring and irregularity (especially proximal femora and proximal humeri)


name: Sensory neuropathy (not a prominent feature)


name: Decreased vibratory sense in lower limbs after long disease duration


name: SMITH-MAGENIS SYNDROME CHROMOSOME REGION


name: Hearing loss (conductive and/or sensorineural)


name: C1-C2 vertebral abnormality (fusion or subluxation)


name: Abnormal EEG in 25% hospitalized patients


name: Distal lower limb muscle weakness and atrophy


name: Limb-girdle muscle weakness, proximal, upper greater than lower


name: Mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)


name: Bone marrow involvement may cause pancytopenia


name: Pulmonary function tests show interstitial lung disease


name: Increased risk of tumor formation, especially of the head


name: Ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by FISH


name: A small minority of patients have translocations and inversions involving 16p13.3


name: Decreased motor nerve conduction velocity (NCV) (less than 20 m/s)


name: Umbilical defect (redundant periumbilical skin)


name: Prominent Schwalbe line (posterior embryotoxon)


name: Retinal pigment epithelial migration and proliferation


name: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE


name: Pulmonary function tests may show restrictive pattern


name: High resolution G- and T- banding karyotype shows reciprocal translocation of distal 9p-6q


name: Small, yellow papules (mouth, neck, axilla, elbows, groin, periumbilical region)


name: Medial calcification of medium-sized and major arteries


name: PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF


name: Prolonged apnea 6-8 hours after administration of suxamethonium or mivacurium


name: Anterior flattening and/or beaking of vertebrae


name: Fluorescence of red blood cells by UV microscopy


name: Excess protoporphyrin in bile and feces but not in urine


name: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT


name: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY


name: Spinal cord compression by tumor infiltration


name: Spinal stenosis from angular kyphoscoliosis


name: Hyperostoses of calvaria, facial bones, and mandible


name: Hemangiomata, especially thorax and upper abdomen


name: Absent/reduced protein S and normal total proteins in heterozygote


name: PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF


name: ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO


name: APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO


name: Premature chromatid separation (PCS) observed in 5% to 50% cultured lymphocytes during metaphase


name: PCS shows separate and splayed chromatids with discernible centromeres


name: PCS involves most of all chromosomes of a metaphase


name: Severe neonatal hypotonia improving with age


name: Onset of obesity from 6 months to 6 years


name: Feeding problems in infancy requiring gavage feeds


name: Small hands (<25th percentile for height age)


name: Small feet (<10th percentile for height age)


name: Microdeletion of 15q11 in 70% of patients confirmed by fluorescent in situ hybridization


name: Elevated fecal levels of protoporphyrin and coproporphyrin at all times


name: Increased urinary porphyrin precursors porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) during acute attacks


name: Reduced liver and red cell uroporphyrinogen decarboxylase (URO decarboxylase)


name: Erythrocyte porphobilinogen (PBG) deaminase deficiency (exception: type II AIP)


name: Increased urinary delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) during acute attacks


name: Urine occasionally port-wine in color secondary to porphobilinogen


name: Translocation or deletions involving 7p13


name: Gastrointestinal hamartomatous polyps (stomach, small bowel, colon)


name: Hamartomatous polyps (stomach to rectum)


name: Hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips


name: Skull osteomas, especially involving the mandibular angle


name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC


name: Multiple fluid-filled cysts throughout the liver


name: Rare obstruction of hepatic venous outflow (ascites)


name: Early satiety due to mass effect of liver


name: Slightly increased serum alkaline phosphatase may occur


name: Rare compression of inferior vena cava (secondary lower extremity edema)


name: Increased prevalence of valvular disease


name: Unilateral hypoplasia or absence of pectoralis major muscle


name: Unilateral hypoplasia or absence of nipple


name: Unilateral hypoplasia or absence of areola


name: Dextrocardia (in left-sided Poland sequence)


name: Diffuse skin atrophy (especially dorsa of hands and feet)


name: Telangiectases in sun-exposed and nonexposed skin


name: Diffuse skin wrinkling (especially dorsa of hands and feet)


name: Frontotemporal lobar atrophy with 'knife-edge' distinction


name: Atrophy may be more severe in the left hemisphere


name: Argyrophilic hyperphosphorylated tau-positive inclusions (Pick bodies)


name: Pick bodies found in neocortical layers, granule cells of the dentate gyrus, and throughout the hippocampus


name: ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


name: Flaccid weakness or paralysis, episodic attacks


name: Muscle weakness is predominantly of extremities and tongue


name: Attacks precipitated by rest after exercise


name: Attacks precipitated by cold temperature


name: Myotonia is present in majority of cases


name: Electrophysiologic studies show abnormal inactivation and delayed repolarization of the SCN4A sodium channel


name: Myopathic findings on biopsy have been occasionally reported


name: Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise


name: Attacks may present during or after sleep


name: Attacks relieved by potassium administration


name: Attacks usually decrease or disappear after age 40 years


name: Progressive interictal weakness is common


name: Tubular aggregates in muscle fibers may occur


name: Hypokalemia occurs during paralytic attacks


name: Deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts


name: Severe progressive ulceration of lower extremities


name: Skin blisters and erosions (neck, perianal, submaxillary, groin, axilla, popliteal fossa)


name: Abnormal bladder regulation due to autonomic dysfunction


name: Abnormal bowel regulation due to autonomic dysfunction


name: Joint swelling (wrist, elbow, knees, ankles) onset late infancy


name: Failure of ossification of pubic bones, ischii, triradiate cartilages


name: Generalized bronze hyperpigmentation (present at birth)


name: Cutis laxa, hands and feet (present at birth)


name: PAROTID PROLINE-RICH SALIVARY PROTEIN Pc


name: Paradoxical myotonia (myotonia increases with exercise)


name: Decreased muscle action potential after warming affected muscle


name: Episodic weakness may or may not occur independent of myotonia


name: Procollagen type I C-terminal propeptide


name: Molar ratio of total branched-chain amino acid to tyrosine


name: Reaction to previous exposure to any vaccine


name: Unintended unilateral bronchial intubation


name: Blood beta human chorionic gonadotropin positive


name: Implantable cardioverter defibrillator insertion


name: Peculiar taste of pharmaceutical product


name: Campylobacter like organism test negative


name: Torsade de pointes/QT prolongation (SMQ)


name: Drug related hepatic disorders - comprehensive search (SMQ)


name: Drug related hepatic disorders - severe events only (SMQ)


name: Liver related investigations, signs and symptoms (SMQ)


name: Cholestasis and jaundice of hepatic origin (SMQ)


name: Liver neoplasms, malignant and unspecified (SMQ)


name: Liver neoplasms, benign (incl cysts and polyps) (SMQ)


name: Hepatic failure, fibrosis and cirrhosis and other liver damage-related conditions (SMQ)


name: Congenital, familial, neonatal and genetic disorders of the liver (SMQ)


name: Liver-related coagulation and bleeding disturbances (SMQ)


name: Hepatic disorders specifically reported as alcohol-related (SMQ)


name: Pregnancy-related hepatic disorders (SMQ)


name: Severe cutaneous adverse reactions (SMQ)


name: Haematopoietic cytopenias affecting more than one type of blood cell (SMQ)


name: Depression and suicide/self-injury (SMQ)


name: Hyperglycaemia/new onset diabetes mellitus (SMQ)


name: Congenital and neonatal arrhythmias (SMQ)


name: Central nervous system vascular disorders (SMQ)


name: Ischaemic central nervous system vascular conditions (SMQ)


name: Haemorrhagic central nervous system vascular conditions (SMQ)


name: Shock-associated circulatory or cardiac conditions (excl torsade de pointes) (SMQ)


name: Torsade de pointes, shock-associated conditions (SMQ)


name: Anaphylactic/anaphylactoid shock conditions (SMQ)


name: Hypoglycaemic and neurogenic shock conditions (SMQ)


name: Congenital, familial and genetic disorders (SMQ)


name: Embolic and thrombotic events, arterial (SMQ)


name: Embolic and thrombotic events, vessel type unspecified and mixed arterial and venous (SMQ)


name: Embolic and thrombotic events, venous (SMQ)


name: Gastrointestinal premalignant disorders (SMQ)


name: Reproductive premalignant disorders (SMQ)


name: Malignancy related therapeutic and diagnostic procedures (SMQ)


name: Cardiac arrhythmia terms (incl bradyarrhythmias and tachyarrhythmias) (SMQ)


name: Bradyarrhythmias (incl conduction defects and disorders of sinus node function) (SMQ)


name: Tachyarrhythmias (incl supraventricular and ventricular tachyarrhythmias) (SMQ)


name: Haemorrhage terms (excl laboratory terms) (SMQ)


name: Neurological, special senses and psychiatric investigations


name: infant formula with iron/dha/ara/Bifidobacterium animalis 2.2 gram-5.1 gram-11.2 gram/100 kcal ORAL POWDER (GRAM)


name: infant formula for PKU, iron, no.2 15 gram-480 kcal/100 gram ORAL POWDER (GRAM)


name: infant formula, special metabolic, urea cycle disorder 7.5 gram-510 kcal/100 gram ORAL POWDER (GRAM)


name: infant form., spec. metabolic, urea cycle disorder


name: nutritional therapy for phenylketonuria (PKU) with iron no.1 30 gram-410 kcal/100 gram ORAL POWDER (GRAM)


name: nutritional therapy, urea cycle disorder 15 gram-440 kcal/100 gram ORAL POWDER (GRAM)


name: nutritional therapy, pulmonary disorder,regular,lactose-free 0.06 gram-1.5 kcal/mL ORAL LIQUID (ML)


name: protease-amylase medical equipment cleaner MISCELL FOAM (ML)


name: protease-amylase medical equipment cleaner MISCELL LIQUID (ML)


name: peritoneal dialysis soln 22 with dextrose 4.25 %


name: peritoneal dialysis soln 23 with dextrose 0.5 %


name: peritoneal dialysis soln 24 with glucose 1.36 %


name: peritoneal dialysis soln 29 with glucose 2.27 %


name: peritoneal dialysis soln 30 with glucose 3.86 %


name: peritoneal dialysis soln no.31 with 3.9 % glucose


name: peritoneal dialysis soln 32 with glucose 3.9 %


name: peritoneal dialysis soln 33 with dextrose 0.5 %


name: peritoneal dialysis soln no.25 with dextrose 1.5 %


name: peritoneal dialysis soln no.26 with dextrose 2.5 %


name: Absorbine Junior Extra Strength Liniment


name: Dome-Paste Bandage 3 inch x 10 yd, topical dressing


name: Gelocast Unna Boot 3 inch x 10 yd, topical dressing


name: Gelocast Unna Boot 4 inch x 10 yd, topical dressing


name: Unna-Flex Elastic Unna Boot 3 inch, topical dressing


name: Unna-Flex Elastic Unna Boot 4 inch, topical dressing


name: Unna-Pak Two-Layer System 3 inch, topical dressing


name: Unna-Pak Two-Layer System 4 inch, topical dressing


name: calamine-zinc oxide topical topical dressing


name: acetaminophen / aspirin / caffeine / calcium gluconate


name: acetaminophen / aspirin / caffeine / codeine / salicylamide


name: acetaminophen / aspirin / caffeine / hydrocodone


name: acetaminophen / aspirin / caffeine / salicylamide


name: acetaminophen / aspirin / phenylpropanolamine


name: acetaminophen / atropine / ethaverine / salicylamide


name: acetaminophen / brompheniramine / pseudoephedrine


name: acetaminophen / butalbital / caffeine / codeine


name: acetaminophen / butalbital / caffeine / hydrocodone


name: acetaminophen / caffeine / chlorpheniramine / phenylephrine / pyrilamine


name: acetaminophen / caffeine / chlorpheniramine / phenylpropanolamine


name: acetaminophen / caffeine / codeine / salicylamide


name: acetaminophen / caffeine / dihydrocodeine


name: acetaminophen / caffeine / guaifenesin / phenylephrine


name: acetaminophen / caffeine / isometheptene


name: acetaminophen / caffeine / phenylpropanolamine / pyrilamine


name: acetaminophen / caffeine / phenylpropanolamine / salicylamide


name: acetaminophen / chlorpheniramine / codeine / phenylephrine


name: acetaminophen / chlorpheniramine / dextromethorphan / phenylephrine


name: acetaminophen / chlorpheniramine / dextromethorphan / pseudoephedrine


name: acetaminophen / chlorpheniramine / phenylephrine


name: acetaminophen / chlorpheniramine / phenylephrine / pyrilamine


name: acetaminophen / chlorpheniramine / phenylephrine / salicylamide


name: acetaminophen / chlorpheniramine / phenylpropanolamine


name: acetaminophen / chlorpheniramine / phenylpropanolamine / salicylamide


name: acetaminophen / chlorpheniramine / pseudoephedrine


name: acetaminophen / codeine / guaifenesin / phenylpropanolamine


name: acetaminophen / dextromethorphan / guaifenesin


name: acetaminophen / dextromethorphan / guaifenesin / phenylephrine


name: acetaminophen / dextromethorphan / guaifenesin / phenylpropanolamine


name: acetaminophen / dextromethorphan / guaifenesin / pseudoephedrine


name: acetaminophen / dextromethorphan / phenylephrine / pyrilamine


name: acetaminophen / dextromethorphan / phenylpropanolamine


name: acetaminophen / dihydrocodeine / salicylamide


name: acetaminophen / diphenhydramine / phenylephrine


name: acetaminophen / diphenhydramine / pseudoephedrine


name: acetaminophen / phenylpropanolamine / phenyltoloxamine


name: acetaminophen / phenyltoloxamine / salicylamide


name: acetaminophen / pseudoephedrine / triprolidine


name: acetone / isopropyl alcohol / polysorbate 80


name: ALLERGENIC EXTRACTS DIAGNOSTIC SCRATCH TEST


name: aluminum acetate / camphor / menthol / phenol


name: aluminum hydroxide / aspirin / codeine / magnesium hydroxide


name: aluminum hydroxide / aspirin / magnesium hydroxide


name: aluminum hydroxide / magnesium hydroxide / magnesium trisilicate


name: aluminum hydroxide / magnesium trisilicate


name: aluminum hydroxide / magnesium trisilicate / phenylbutazone


name: ALUMINUM/MAGNESIUM/SODIUM BICARBONATE CONTAINING ANTACIDS


name: aminophylline / ephedrine / guaifenesin / phenobarbital


name: aminophylline / ephedrine / phenobarbital


name: aminophylline / ephedrine / phenobarbital / potassium iodide


name: ammonium chloride / antimony potassium tartrate / ipecac


name: ammonium chloride / chlorpheniramine / codeine / phenylephrine


name: amylase / cellulase / hyoscyamine / lipase / phenyltoloxamine / protease


name: amylase / lipase / pancreatin / protease


name: ANTIDOTES,DETERRENTS,AND POISON CONTROL EXCHANGE RESINS


name: antipyrine / hydrocortisone / neomycin / polymyxin B


name: aprobarbital / butabarbital / phenobarbital


name: ascorbic acid / chlorpheniramine / phenylpropanolamine / pyrilamine


name: ascorbic acid / docusate / ferrous fumarate


name: ascorbic acid / ferrous fumarate / folic acid


name: ascorbic acid / ferrous sulfate / folic acid


name: aluminum hydroxide / aspirin / calcium carbonate / magnesium hydroxide


name: aspirin / butalbital / caffeine / phenacetin


name: aspirin / caffeine / dihydrocodeine / promethazine


name: aspirin / promethazine / pseudoephedrine


name: atropine / brompheniramine / phenyltoloxamine / pseudoephedrine


name: atropine / chlorpheniramine / hyoscyamine / phenylephrine / scopolamine


name: atropine / chlorpheniramine / phenylephrine / phenyltoloxamine


name: atropine / chlorpheniramine / phenylpropanolamine


name: atropine / hyoscyamine / phenobarbital / scopolamine


name: bacitracin / diperodon / neomycin / polymyxin B


name: bacitracin / hydrocortisone / neomycin / polymyxin B


name: BAG,CLOSED WITH ADHESIVE COLOSTOMY/ILEOSTOMY


name: BAG,CLOSED WITHOUT ADHESIVE COLOSTOMY/ILEOSTOMY


name: BAGS/TUBES/SUPPLIES FOR ORAL NUTRITION,OTHER


name: BARBITURIC ACID DERIVATIVE SEDATIVES/HYPNOTICS


name: bendroflumethiazide / potassium chloride


name: benzocaine / bismuth subnitrate / cerium oxalate


name: benzocaine / calcium carbonate / magnesium carbonate / phenobarbital


name: benzocaine / isopropyl alcohol / menthol


name: benzocaine / phenylephrine / phenylpropanolamine


name: bismuth subnitrate / calcium carbonate / magnesium carbonate


name: bismuth subsalicylate / calcium carbonate


name: BOTTLES/OTHER BEDSIDE URINARY COLLECTION DEVICES


name: brilliant green / gentian violet / proflavine


name: brompheniramine / codeine / phenylephrine


name: brompheniramine / dextromethorphan / pseudoephedrine


name: brompheniramine / guaifenesin / pseudoephedrine


name: brompheniramine / phenylephrine / phenylpropanolamine


name: brompheniramine / phenylephrine / phenyltoloxamine


name: butabarbital / ephedrine / guaifenesin / theophylline


name: butabarbital / epinephrine / theophylline


name: butabarbital / phenobarbital / secobarbital


name: caffeine / phenacetin / salicylamide / styramate


name: calcium carbonate / famotidine / magnesium hydroxide


name: CALCIUM CARBONATE/FERROUS FUMARATE/VITAMIN D


name: calcium carbonate / folic acid / magnesium carbonate


name: calcium carbonate / magnesium carbonate / magnesium oxide


name: CALCIUM CARBONATE/MAGNESIUM CARBONATE/VITAMIN D


name: calcium carbonate / magnesium hydroxide / phenobarbital


name: calcium carbonate / magnesium hydroxide / simethicone


name: calcium gluconate / niacinamide / phenobarbital


name: calcium glycerophosphate / calcium levulinate


name: calcium undecylenate / zinc undecylenate


name: camphor / Eucalyptus oil / menthol / methyl salicylate


name: cantharidin / podophyllin / salicylic acid


name: caramiphen / chlorpheniramine / isopropamide / phenylpropanolamine


name: carbinoxamine / dextromethorphan / pseudoephedrine


name: carbon monoxide / helium / nitrogen / oxygen


name: CARBONIC ANHYDRASE INHIBITORS,SYSTEMIC OPHTHALMIC


name: carboxymethylcellulose / casanthranol / docusate


name: carboxymethylcellulose / docusate / phenolphthalein


name: cetylpyridinium / chloroxylenol / triacetin


name: chloramphenicol / hydrocortisone / polymyxin B


name: chlorophyllin copper complex / sodium chloride


name: chlorophyllin copper complex / sodium propionate


name: chloroxylenol / hydrocortisone / pramoxine


name: chlorpheniramine / codeine / iodinated glycerol


name: chlorpheniramine / codeine / phenylephrine


name: chlorpheniramine / codeine / phenylephrine / phenylpropanolamine


name: chlorpheniramine / codeine / phenylpropanolamine


name: chlorpheniramine / dextromethorphan / guaifenesin / phenylephrine


name: chlorpheniramine / dextromethorphan / phenylephrine


name: chlorpheniramine / dextromethorphan / phenylpropanolamine


name: chlorpheniramine / ephedrine / guaifenesin / hydroiodic acid


name: chlorpheniramine / guaifenesin / phenylpropanolamine


name: chlorpheniramine / hydrocortisone / pheniramine / pyrilamine


name: chlorpheniramine / methscopolamine / pseudoephedrine


name: chlorpheniramine / phenindamine / phenylpropanolamine


name: chlorpheniramine / phenylephrine / phenylpropanolamine


name: chlorpheniramine / phenylephrine / phenylpropanolamine / pyrilamine


name: chlorpheniramine / phenylephrine / phenyltoloxamine


name: chlorpheniramine / phenylpropanolamine / pseudoephedrine


name: chlorpheniramine / phenylpropanolamine / pyrilamine


name: citric acid / magnesium oxide / sodium carbonate


name: citric acid / potassium citrate / sodium citrate


name: citric acid / simethicone / sodium bicarbonate


name: codeine / guaifenesin / pseudoephedrine / triprolidine


name: codeine / menthol / pheniramine / phenylephrine


name: codeine / phenylephrine / pseudoephedrine


name: codeine / phenylpropanolamine / promethazine


name: colistin / hydrocortisone / neomycin / thonzonium


name: dexchlorpheniramine / dextromethorphan / pseudoephedrine


name: dexchlorpheniramine / guaifenesin / pseudoephedrine


name: dichlorotetrafluoroethane / ethyl chloride


name: diphenhydramine / guaifenesin / menthol / sodium citrate


name: DRESSING,AQUACEL AG 4IN X 4.7IN C#403765


name: DRESSING,COPA 3.5IN X 3IN FENESTRATED KEN#55535


name: dyphylline / ephedrine / guaifenesin / phenobarbital


name: ephedrine / guaifenesin / phenobarbital / theophylline


name: ephedrine / phenobarbital / potassium iodide / theophylline


name: ergotamine / hyoscyamine / phenobarbital


name: follicle stimulating hormone / luteinizing hormone


name: guaifenesin / hydrocodone / phenindamine


name: guaifenesin / hydrocodone / phenylpropanolamine / salicylamide


name: HEMORRHOIDAL PREPARATIONS WITHOUT STEROID


name: hexachlorophene / hydrocortisone / menthol


name: hydrocortisone / isopropyl alcohol / resorcinol / sulfur


name: hydrocortisone / salicylic acid / sulfur


name: hydrofluoric acid / phosphoric acid / sodium fluoride


name: hydrofluoric acid / sodium fluoride / stannous fluoride


name: INVEST ANTI-NEOPLASTIC BONE,CONNECTIVE TISSUE,SKIN,BREAST


name: INVEST ANTI-NEOPLASTIC DIGESTIVE ORGANS,PERITONEUM


name: INVEST ANTI-NEOPLASTIC DRUGS LIP,ORAL CAVITY AND PHARYNX


name: INVEST ANTI-NEOPLASTIC DRUGS LYMPHATIC AND HEMAPOIETIC TISSUE


name: INVEST DRUGS FOR DIALYSIS AND VOLUME/ELECTROLYTE SUPPORT


name: INVEST DRUGS FOR PSYCHOSIS AND POST TRAMATIC STRESS DISORDER


name: INVEST DRUGS PSORIASIS,ECZEMA,NON-INFECTIOUS DERMATITIS


name: INVEST HEMATOLOGIC DEFICIENCIES,HEMATOPOEITIC GROWTH FACTORS


name: INVEST HORMONE THERAPY/REPLACEMENT ANDROGEN AND ANABOLIC


name: INVEST HORMONE THERAPY/REPLACEMENT ESTROGENS AND PROGESTINS


name: INVESTIGATIONAL ANTI-NAUSEA AND ANTI-EMETIC DRUGS


name: INVESTIGATIONAL ANTI-NEOPLASTIC DRUGS CNS


name: INVESTIGATIONAL ANTI-NEOPLASTIC DRUGS GENITOURINARY ORGANS


name: INVESTIGATIONAL ANTI-NEOPLASTIC DRUGS INTRATHORACIC ORGANS


name: INVESTIGATIONAL ANTI-NEOPLASTIC DRUGS, GENE THERAPY


name: INVESTIGATIONAL ANTI-VIRAL DRUGS HEPATITIS B


name: INVESTIGATIONAL ANTI-VIRAL DRUGS HEPATITIS C


name: INVESTIGATIONAL CONGESTIVE HEART FAILURE


name: INVESTIGATIONAL DRUGS FOR ALLERGY AND NASAL CONGESTION


name: INVESTIGATIONAL DRUGS FOR ARTHRITIS AND GOUT


name: INVESTIGATIONAL DRUGS FOR ASTHMA AND COPD


name: INVESTIGATIONAL DRUGS FOR CENTRAL AND PERIPHERAL NEUROPATHY


name: INVESTIGATIONAL DRUGS FOR GASTROESOPHAGEAL REFLUX DISEASE


name: INVESTIGATIONAL DRUGS FOR HEMATOLOGIC DEFICIENCIES,OTHER


name: INVESTIGATIONAL DRUGS FOR IMMUNOLOGIC DISEASES,OTHER


name: INVESTIGATIONAL DRUGS FOR MANIA AND BIPOLAR DISORDERS


name: INVESTIGATIONAL DRUGS FOR MUSCULOSKELETAL CONDITIONS,OTHER


name: INVESTIGATIONAL DRUGS FOR NASAL/THROAT DISEASES,OTHER


name: INVESTIGATIONAL DRUGS FOR ORGAN TRANSPLANTATION


name: INVESTIGATIONAL DRUGS FOR OTHER DERMATOLOGICAL DISEASES


name: INVESTIGATIONAL DRUGS FOR OTHER GASTROINTESTINAL DISEASES


name: INVESTIGATIONAL DRUGS FOR OTHER INDICATIONS


name: INVESTIGATIONAL DRUGS FOR PANCREATIC ENZYME DEFICIENCY


name: INVESTIGATIONAL DRUGS FOR PARKINSON'S DISEASE


name: INVESTIGATIONAL DRUGS FOR PEPTIC ULCER DISEASE


name: INVESTIGATIONAL DRUGS FOR PSYCHIATRIC DISEASE,OTHER


name: INVESTIGATIONAL DRUGS FOR RESPIRATORY TRACT DISEASE,OTHER


name: INVESTIGATIONAL DRUGS FOR SUBSTANCE ADDICTION TREATMENT


name: INVESTIGATIONAL DRUGS FOR VITAMIN OR MINERAL DEFICIENCY


name: INVESTIGATIONAL HORMONE THERAPY/REPLACEMENT, THYROID


name: INVESTIGATIONAL OTHER CARDIOVASCULAR DISEASES


name: ISOPROPYL ALCOHOL/SALICYLIC ACID/SODIUM THIOSULFATE


name: MAGNESIUM/SODIUM BICARBONATE CONTAINING ANTACIDS


name: MONAMINE OXIDASE INHIBITOR ANTIDEPRESSANTS


name: naphazoline / phenylephrine / pyrilamine


name: OXYBENZONE/PADIMATE O/PARA-AMINOBENZOIC ACID/SD ALCOHOL 40


name: oxytetracycline / phenazopyridine / sulfamethizole


name: pheniramine / phenylpropanolamine / phenyltoloxamine / pyrilamine


name: pheniramine / phenylpropanolamine / pyrilamine


name: phenobarbital / potassium iodide / sodium bicarbonate / theobromine


name: phenylephrine / phenylpropanolamine / pseudoephedrine


name: phenylephrine / prednisolone / sulfacetamide


name: petroleum distillate / piperonyl butoxide / pyrethrins


name: polyethylene glycol 400 / propylene glycol


name: polyethylene glycols / polyvinyl alcohol


name: potassium acetate / potassium bicarbonate / potassium citrate


name: Promote High Protein Nutritional Supplement


name: SODIUM CHLORIDE/SODIUM SULFITE/SODIUM THIOSULFATE


name: sulfadiazine / sulfamerazine / sulfamethazine


name: TUBE FEEDING SET FLEXIFLO QUANTUM K#50600


name: TUBE FEEDING SET FLEXIFLO QUANTUM K#50604


name: VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO


name: {21 (ethinyl estradiol 0.035 MG / norethindrone 0.4 MG Chewable Tablet) / 7 (ferrous fumarate 75 MG Chewable Tablet) } Pack [Ovcon 35 Fe 28 Day]


name: {21 (ethinyl estradiol 0.035 MG / norethindrone 0.4 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack [Zenchent 28 Day]


name: {21 (ethinyl estradiol 0.035 MG / norethindrone 0.5 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack [Nortrel 0.5/35 28 Day]


name: {21 (ethinyl estradiol 0.035 MG / norethindrone 1 MG Oral Tablet) } Pack [Nortrel 1/35 21 Day]


name: {21 (ethinyl estradiol 0.02 MG / norethindrone acetate 1 MG Oral Tablet) / 7 (ferrous fumarate 75 MG Oral Tablet) } Pack [Junel Fe 1/20 28 Day]


name: {7 (ethinyl estradiol 0.035 MG / norgestimate 0.18 MG Oral Tablet) / 7 (ethinyl estradiol 0.035 MG / norgestimate 0.215 MG Oral Tablet) / 7 (ethinyl estradiol 0.035 MG / norgestimate 0.25 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack [Trinessa 28 Day]


name: emollient combination no. 24 TOPICAL OINTMENT (GRAM)


name: hemodialysis solution no.57 without dextrose


name: hemodialysis solution no.15 without potassium


name: infant formula, special metabolic, urea cycle disorder 6.5 gram-500 kcal/100 gram ORAL POWDER (GRAM)


name: nutritional therapy for phenylketonuria(PKU) with iron no.10 16.2 gram-500 kcal/100 gram ORAL POWDER (GRAM)


name: nutritional therapy, urea cycle disorder 8.2 gram-410 kcal/100 gram ORAL POWDER (GRAM)


name: nut.therapy,phenylketonuria (PKU) with iron, no.10


name: nut.therapy, phenylketonuria(PKU) with iron, no.20


name: nut.therapy, phenylketonuria(PKU) with iron, no.21


name: spironolactone, micronized 100 % MISCELL POWDER (GRAM)


name: subcutaneous administration set 10 mm X 110 cm SUBCUT INFUSION SETS-PARAPHERNALIA


name: subcutaneous administration set 8 mm X 110 cm SUBCUT INFUSION SETS-PARAPHERNALIA


name: dexbrompheniramine / phenylephrine / pyrilamine


name: hydrocodone / pseudoephedrine / triprolidine


name: CATHERIZATION SET,ADD-A-FOLEY KENDALL #6176


name: CATHERIZATION SET,FOLEY 16FR BARD #899716


name: CATHERIZATION SET,FOLEY 16FR KENDALL #6146


name: CATHERIZATION SET,FOLEY 16FR KENDALL #6155


name: CATHERIZATION SET,FOLEY 18FR BARD #899718


name: CATHERIZATION SET,FOLEY 18FR KENDALL #6148


name: CATHERIZATION SET,INTERMITTENT 12FR C#28027S


name: CATHERIZATION SET,INTERMITTENT 14FR C#28028S


name: {21 (drospirenone 3 MG / ethinyl estradiol 0.03 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack [Yasmin 28 Day]


name: {28 (drospirenone 0.5 MG / estradiol 1 MG Oral Tablet) } Pack [Angeliq 0.5/1 28 Day]


name: {21 (ethinyl estradiol 0.02 MG / levonorgestrel 0.1 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack [Alesse 28 Day]


name: {21 (ethinyl estradiol 0.035 MG / norethindrone 0.4 MG Oral Tablet) } Pack [Ovcon 35 21 Day]


name: {12 (ethinyl estradiol 0.035 MG / norethindrone 0.5 MG Oral Tablet) / 9 (ethinyl estradiol 0.035 MG / norethindrone 1 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack [Leena 28 Day]


name: {7 (ethinyl estradiol 0.025 MG / norgestimate 0.18 MG Oral Tablet) / 7 (ethinyl estradiol 0.025 MG / norgestimate 0.215 MG Oral Tablet) / 7 (ethinyl estradiol 0.025 MG / norgestimate 0.25 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack [Ortho Tri-Cyclen Lo 28 Day]


name: {31 (doxycycline monohydrate 100 MG Oral Tablet [Adoxa]) } Pack [Adoxa Pak 1/100]


name: {31 (doxycycline monohydrate 75 MG Oral Tablet [Adoxa]) } Pack [Adoxa Pak 1/75]


name: {60 (doxycycline monohydrate 100 MG Oral Tablet [Adoxa]) } Pack [Adoxa Pak 2/100]


name: {10 (12 HR chlorpheniramine maleate 4 MG / methscopolamine nitrate 2.5 MG Extended Release Oral Tablet [Allerx DF AM]) / 10 (12 HR chlorpheniramine maleate 8 MG / methscopolamine nitrate 2.5 MG Extended Release Oral Tablet [AlleRx PM]) } Pack [AlleRx DF Dose Pack 10]


name: {30 (12 HR chlorpheniramine maleate 8 MG / methscopolamine nitrate 2.5 MG Extended Release Oral Tablet [AlleRx PM]) / 30 (12 HR methscopolamine nitrate 2.5 MG / pseudoephedrine hydrochloride 120 MG Extended Release Oral Tablet [AlleRx AM]) } Pack [AlleRx 30 Dose Pack]


name: {10 (12 HR chlorpheniramine maleate 8 MG / methscopolamine nitrate 2.5 MG Extended Release Oral Tablet [AlleRx PM]) / 10 (12 HR methscopolamine nitrate 2.5 MG / pseudoephedrine hydrochloride 120 MG Extended Release Oral Tablet [AlleRx AM]) } Pack [AlleRx Dose Pack 10]


name: {5 (moxifloxacin 400 MG Oral Tablet [Avelox]) } Pack [Avelox ABC]


name: {56 (varenicline 1 MG Oral Tablet [Chantix]) } Pack [Chantix Continuing Months Of Therapy]


name: {11 (varenicline 0.5 MG Oral Tablet [Chantix]) / 42 (varenicline 1 MG Oral Tablet [Chantix]) } Pack [Chantix First Month of Therapy]


name: {10 (chlorpheniramine maleate 8 MG / methscopolamine nitrate 2.5 MG Oral Tablet) / 10 (methscopolamine nitrate 2.5 MG / pseudoephedrine hydrochloride 120 MG Oral Tablet) } Pack [RhinaClear Dose Pack 10]


name: {10 (12 HR chlorpheniramine maleate 8 MG / methscopolamine nitrate 2.5 MG Extended Release Oral Tablet) / 10 (12 HR methscopolamine nitrate 2.5 MG / pseudoephedrine hydrochloride 120 MG Extended Release Oral Tablet) } Pack [AllePak Dose Pack 10]


name: MEBROFENIN 45 mg INTRAVENOUS INJECTION, POWDER, LYOPHILIZED, FOR SOLUTION [Choletec]


name: {6 (ciprofloxacin 100 MG Oral Tablet [Cipro]) } Pack [Cipro Cystitis Pack]


name: {21 (ethinyl estradiol 0.05 MG / ethynodiol diacetate 1 MG Oral Tablet) } Pack [Demulen 1/50 21 Day]


name: {7 (desogestrel 0.1 MG / ethinyl estradiol 0.025 MG Oral Tablet) / 7 (desogestrel 0.125 MG / ethinyl estradiol 0.025 MG Oral Tablet) / 7 (desogestrel 0.15 MG / ethinyl estradiol 0.025 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack


name: {21 (desogestrel 0.15 MG / ethinyl estradiol 0.02 MG Oral Tablet) / 5 (ethinyl estradiol 0.01 MG Oral Tablet) / 2 (inert ingredients 1 MG Oral Tablet) } Pack


name: {51 (dexamethasone 1.5 MG Oral Tablet) } Pack [DexPak TaperPak 13 Day]


name: {21 (ethinyl estradiol 0.02 MG / levonorgestrel 0.1 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack


name: {21 (ethinyl estradiol 0.035 MG / ethynodiol diacetate 1 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack


name: {21 (ethinyl estradiol 0.035 MG / norgestimate 0.25 MG Oral Tablet) / 7 (inert ingredients 1 MG Oral Tablet) } Pack


name: {21 (ethinyl estradiol 0.035 MG / norethindrone 0.4 MG Chewable Tablet) / 7 (ferrous fumarate 75 MG Chewable Tablet) } Pack [Femcon Fe 28 Day]


name: {4 (Bisacodyl 5 MG Enteric Coated Tablet) / 1 (2000 ML) (POLYETHYLENE GLYCOL 3350 105 MG/ML / Potassium Chloride 0.00497 MEQ/ML / Sodium Bicarbonate 0.017 MEQ/ML / Sodium Chloride 0.0479 MEQ/ML Oral Solution [Halflytely]) } Pack [HalfLytely and Bisacodyl Bowel Prep Kit]


name: {10 (Ifosfamide 50 MG/ML Injectable Solution [Ifex]) / 10 (Mesna 100 MG/ML Injectable Solution [Mesnex]) } Pack [Ifex / Mesnex Kit 10]


name: {2 (Ifosfamide 50 MG/ML Injectable Solution [Ifex]) / 6 (Mesna 100 MG/ML Injectable Solution [Mesnex]) } Pack [Ifex / Mesnex Kit 2/6]


name: {30 (benzoyl peroxide 40 MG/ML Medicated Pad) / 30 (salicylic acid 10 MG/ML Medicated Pad) } Pack [Inova 4/1]


name: {5 (levofloxacin 750 MG Oral Tablet [Levaquin]) } Pack [Levaquin Leva Pack]


name: {21 (methylprednisolone 4 MG Oral Tablet [Medrol]) } Pack [Medrol Dosepak]


name: Methylphenidate Hydrochloride Bulk powder


name: {1 (9000 MG) (miconazole nitrate 20 MG/ML Vaginal Cream) / 3 (miconazole nitrate 200 MG Vaginal Insert) } Pack


name: {1 (9000 MG) (miconazole nitrate 20 MG/ML Vaginal Cream) / 3 (5000 MG) (miconazole nitrate 40 MG/ML Vaginal Cream) } Pack


name: {21 (memantine hydrochloride 10 MG Oral Tablet [Namenda]) / 28 (memantine hydrochloride 5 MG Oral Tablet [Namenda]) } Pack [Namenda 49 Titration Pack]


name: {30 (aspirin 325 MG Oral Tablet) / 30 (pravastatin sodium 20 MG Oral Tablet [Pravachol]) } Pack [Pravigard 325/20]


name: {30 (aspirin 325 MG Oral Tablet) / 30 (pravastatin sodium 40 MG Oral Tablet [Pravachol]) } Pack [Pravigard 325/40]


name: {30 (aspirin 325 MG Oral Tablet) / 30 (pravastatin sodium 80 MG Oral Tablet [Pravachol]) } Pack [Pravigard 325/80]


name: {30 (aspirin 81 MG Oral Tablet) / 30 (pravastatin sodium 40 MG Oral Tablet [Pravachol]) } Pack [Pravigard 81/40]


name: {30 (aspirin 81 MG Oral Tablet) / 30 (pravastatin sodium 80 MG Oral Tablet [Pravachol]) } Pack [Pravigard 81/80]


name: {28 (ribavirin 400 MG Oral Tablet [RibaTab]) / 28 (ribavirin 600 MG Oral Tablet [RibaTab]) } Pack [RibaTab 1000 mg/day Compliance Pack]


name: {48 (prednisone 5 MG Oral Tablet [Sterapred]) } Pack [Sterapred 5 MG 12 Day Uni-Pak]


name: {21 (prednisone 5 MG Oral Tablet [Sterapred]) } Pack [Sterapred 5 MG Uni-Pak]


name: {48 (prednisone 10 MG Oral Tablet [Sterapred DS]) } Pack [Sterapred DS 12 Day Uni-Pak]


name: {1 (9000 MG) (miconazole nitrate 20 MG/ML Vaginal Cream [Vagistat]) / 3 (miconazole nitrate 200 MG Vaginal Insert [Vagistat]) } Pack [Vagistat 3 Day Combination Pack]


name: Zevalin 3.2mg/2ml Kit for the Preparation of Indium In-111 Solution for Injection


name: {3 (azithromycin 500 MG Oral Tablet [Zithromax]) } Pack [TRI-PAK]


name: {6 (azithromycin 250 MG Oral Tablet [Zithromax]) } Pack [Z-PAK]


name: Aluminum Chlorohydrate 16% Topical application Lotion


name: Elbow Joint Implantable Prosthesis (device)


name: Deprecated little i NOS Ag [Presence] on Red Blood Cells from Blood product unit


name: Incision and drainage of peritonsillar abscess (procedure)


name: Autologous Epstein-Barr Virus-Specific Cytotoxic T Lymphocytes


name: Nuclear Medicine Modular Medical Facilities


name: Single-Photon Emission Tomography Modular Medical Facilities