Increased circulating 18-hydroxycortisone level


Abnormal glomerular capillary morphology


Elevated prostate-specific antigen level


Decreased erythrocyte sedimentation rate


Abnormality of enteric nervous system morphology


Abnormality of enteric neuron morphology


Abnormality of digestive system physiology


Abnormality of digestive system morphology


Abnormal morphology of erythroid progenitor cell


Abnormal brain N-acetyl aspartate level by MRS


Elevated brain N-acetyl aspartate level by MRS


Abnormality of olfactory lobe morphology


Abnormal cutaneous elastic fiber morphology


Abnormal large intestinal mucosa morphology


Cutis marmorata telangiectatica congenita


obsolete Simple partial occipital seizures


Abnormal small intestinal mucosa morphology


Decreased small intestinal mucosa lactase level


Abnormality of hepatobiliary system physiology


Increased number of elastic fibers in the dermis


Clumping of elastic fibers in the dermis


Neuronal/glioneuronal neoplasm of the central nervous system


Smooth septal thickening on pulmonary HRCT


Nodular septal thickening on pulmonary HRCT


Irregular septal thickening on pulmonary HRCT


Centrilobular ground-glass opacification on pulmonary HRCT


Bilateral tonic-clonic seizure with generalized onset


Subtentorial periventricular white matter hyperdensity


Muscle fiber actin filament accumulation


Abnormal circulating apolipoprotein concentration


Elevated circulating apolipoprotein A-IV concentration


Subretinal pigment epithelium hemorrhage


Leakage of dye on fundus fluorescein angiography


Anti-glutamic acid decarboxylase antibody positivity


Abnormality of circulating beta-2-microglobulin level


Increased circulating beta-2-microglobulin level


Decreased circulating beta-2-microglobulin level


Anti-multiple nuclear dots antibody positivity


Abnormality of medullary pyramid morphology


Anti-thyroid peroxidase antibody positivity


Increased circulating androstenedione concentration


Diet-resistant subcutaneous adipose tissue


Diet-resistant subcutaneous adipose tissue below waist


Pulmonary interstitial high-resolution computed tomography abnormality


Reticulonodular pattern on pulmonary HRCT


Combined cystic and ground-glass pattern on pulmonary HRCT


Decreased attenuation pattern on pulmonary HRCT


Mosaic attenuation pattern on pulmonary HRCT


Nodular-perilymphatic pattern on pulmonary HRCT


Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT


Nodular-random pattern on pulmonary HRCT


Decreased lecithin cholesterol acyl transferase level


Increased circulating lactate dehydrogenase concentration


Morphological abnormality of the papillary muscles


Anomalous insertion of papillary muscle directly into anterior mitral leaflet


Anterior displacement of the papillary muscles


Apically displaced anterolateral papillary muscle


Decreased CSF 5-hydroxyindolacetic acid concentration


Increased reactive oxygen species production


Abnormal circulating beta globulin level


Abnormal circulating thyroglobulin level


Increased circulating thyroglobulin level


Anomalous coronary artery arising from the opposite sinus


Anomalous origin of the circumflex artery from the right sinus of Valsalva


Elongated chordae tendinae of the mitral valve


Abnormal morphology of the chordae tendinae of the mitral valve


obsolete Decreased activity of complement receptor


Abnormal mean corpuscular hemoglobin concentration


Decreased mean corpuscular hemoglobin concentration


Increased mean corpuscular hemoglobin concentration


Elevated circulating ribitol concentration


Periorbital ecchymosis with tarsal plate sparing


Abnormal morphology of the choroidal vasculature


Abnormal superior oblique muscle physiology


Abnormal inferior oblique muscle physiology


Abnormal inferior rectus muscle physiology


Abnormal superior rectus muscle physiology


Abnormal medial rectus muscle physiology


Abnormal proportion of CD4+ central memory cells


obsolete Increased proportion of CD4+ central memory cells


obsolete Decreased proportion of CD4+ central memory cells


Abnormal proportion of CD4+ effector memory cells


Reduced proportion of CD4+ effector memory T cells


Elevated proportion of CD4+ effector memory T cells


Increased circulating octadecanoate level


Increased circulating myristoleate level


Anti-myelin-associated glycoprotein antibody positivity


Reduced reactive oxygen species production in neutrophils


Elevated circulating glycolate concentration


Steroid-sensitive nephrotic syndrome with infrequent relapses


Steroid-sensitive nephrotic syndrome with frequent relapses


Abnormal placental adhesion into the uterine wall


Abnormal umbilical blood flow measurement


obsolete Abnormal umbilical artery Doppler pattern in pregnancy


Decreased circulating creatine kinase concentration


Premature closure of the ductus arteriosus


Compound muscle action potential amplitude facilitation


Abnormal amyloid beta 42 peptide CSF concentration


Decreased amyloid beta 42 peptide CSF concentration


Increased amyloid beta 42 peptide CSF concentration


Abnormal amyloid beta 40 peptide CSF concentration


Increased amyloid beta 40 peptide CSF concentration


Abnormal amyloid beta peptide CSF concentration


Fetal intra-abdominal umbilical vein varix


Abnormal umbilical artery doppler waveform during pregnancy


Skeletal muscle autophagosome accumulation


Type 1 congenital pulmonary airway malformation


Type 2 congenital pulmonary airway malformation


Type 3 congenital pulmonary airway malformation


EMG: repetitive nerve stimulation abnormality


Abnormal female reproductive system physiology


Glomerular basement membrane lamellation


Peripheral primitive neuroectodermal neoplasm


Punctate periventricular T2 hyperintense foci


Abnormal circulating testosterone concentration


Abnormal muscle fiber protein expression


Abnormal muscle fiber merosin expression


Abnormal muscle fiber dystrophin expression


Abnormal muscle fiber alpha dystroglycan


Sacralization of the fifth lumbar vertebra


Impaired ristocetin cofactor assay activity


Impaired von Willebrand factor collagen binding activity


Abnormal von Willebrand factor multimer distribution


Absence of large von Willebrand factor multimers


Abnormal presence of ultra-large von Willebrand factor multimers


Total absence von Willebrand factor multimers


Absence of intermediate von Willebrand factor multimers


Enhanced ristocetin cofactor assay activity


Prolonged bleeding following circumcision


Excessive bleeding from superficial cuts


Abnormality of peripheral nervous system electrophysiology


Abnormality of central nervous system electrophysiology


Abnormal peripheral action potential amplitude


Impaired visually enhanced vestibulo-ocular reflex


Abnormal peripheral nervous system synaptic transmission


Fatigable weakness of swallowing muscles


Fatigable weakness of respiratory muscles


Fatigable weakness of distal limb muscles


Fatiguable weakness of proximal limb muscles


Response to drugs acting on neuromuscular transmission


Favorable response of weakness to acetylcholine esterase inhibitors


Unfavorable response of muscle weakness to acetylcholine esterase inhibitors


EMG: incremental response of compound muscle action potential to repetitive nerve stimulation


Anti-acetylcholine receptor antibody positivity


Anti-muscle-specific tyrosine kinase antibody


Manifestations of perseverative thought or action


Abnormal muscle fiber valosin-containing protein


Accumulation of muscle fiber valosin-containing protein


Glycogen accumulation in muscle fiber lysosomes


obsolete Abnormality of the sacroiliac notch


Calcification of the interosseus membrane of the forearm


Increased circulating insulin-like growth factor 1 concentration


Elevated red cell adenosine deaminase level


Reduced erythrocyte 2,3-diphosphoglycerate concentration


Reduced red cell adenosine deaminase level


Partial absence of the septum pellucidum


Multinucleated giant chondrocytes in epiphyseal cartilage


Impaired stimulus-induced skin wrinkling


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


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count


Absence of CD4-positive, CD25-positive regulatory T cells


Elevated CD4-positive, CD25-positive regulatory T cell count


Abnormal circulating gonadotropin concentration


Decreased circulating gonadotropin concentration


obsolete Increased circulating gonadotropin level


Decreased circulating follicle stimulating hormone concentration


Decreased circulating luteinizing hormone level


Abnormal circulating luteinizing hormone concentration


Abnormal circulating follicle-stimulating hormone concentration


Increased circulating androgen concentration


Decreased circulating androgen concentration


Abnormal serum insulin-like growth factor 1 level


Decreased serum insulin-like growth factor 1


Abnormal circulating interferon concentration


Abnormal circulating interferon-gamma concentration


Increased circulating interferon-gamma concentration


Abnormal circulating eicosanoid concentration


Increased proportion of immature B cells


Decreased proportion of immature B cells


Abnormal proportion of transitional B cells


Decreased proportion of transitional B cells


Increased proportion of transitional B cells


Abnormal proportion of marginal zone B cells


Decreased proportion of marginal zone B cells


Increased proportion of marginal zone B cells


Abnormal proportion of class-switched memory B cells


Increased proportion of class-switched memory B cells


Decreased proportion of class-switched memory B cells


Abnormal circulating thromboxane concentration


Reduced circulating leukotriene C4 concentration


Abnormal platelet dense granule secretion


Abnormal platelet ATP dense granule secretion


Abnormal platelet alpha granule secretion


Abnormal platelet dense granule ATP/ADP ratio


obsolete Papillary cystadenoma of the epididymis


Neoplasm of the autonomic nervous system


Abnormality of pattern visual evoked potentials


Abnormality of pattern onset/offset visual evoked potentials


Abnormal amplitude of pattern onset/offset visual evoked potentials


Abnormal timing of pattern onset/offset visual evoked potentials


Abnormal timing of pattern reversal visual evoked potentials


Abnormal timing of flash visual evoked potentials


Abnormal amplitude of flash visual evoked potentials


Asymmetrical distribution of flash visual evoked potentials


Asymmetrical distribution of pattern reversal visual evoked potentials


Abnormal dark-adapted bright flash electroretinogram


Abnormal dark-adapted dim flash electroretinogram


Abnormal light-adapted single flash electroretinogram


Abnormal light-adapted flicker electroretinogram


Abnormal timing of dark-adapted dim flash electroretinogram


Abnormal amplitude of dark-adapted dim flash electroretinogram


Abnormal timing of dark-adapted bright flash electroretinogram


Abnormal amplitude of dark-adapted bright flash electroretinogram


Abnormal amplitude of light-adapted flicker electroretinogram


Abnormal timing of light-adapted flicker electroretinogram


Abnormal amplitude of light-adapted single flash electroretinogram


Abnormal timing of light-adapted single flash electroretinogram


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave


Supernormal dark-adapted bright flash electroretinogram b-wave


Abnormal amplitude of pattern electroretinogram


Abnormal timing of pattern electroretinogram


Abnormal P50/N95 ratio of pattern electroretinogram


Abnormal central response of multifocal electroretinogram


Abnormal paracentral response of multifocal electroretinogram


Abnormality morphology of the macular vasculature


Grouped congenital hypertrophy of retinal pigment epithelium


Combined hamartoma of the retinal pigment epithelium and retina


Difficulty adjusting to changes in luminance


Mild constriction of peripheral visual field


obsolete Peripheral visual field constriction with 40-50 degrees central field preserved


obsolete Peripheral visual field constriction with 30-39 degrees central field preserved


Moderate constriction of peripheral visual field


Severe constriction of peripheral visual field


Very severe constriction of peripheral visual field


Abnormal best corrected visual acuity test


Visual acuity light perception with projection


Visual acuity light perception without projection


Abnormal confrontational visual field test


Abnormal automated kinetic perimetry test


Abnormal static automated perimetry test


Abnormal Humphrey SITA 30-2 perimetry test


Abnormal Humphrey SITA 24-2 perimetry test


Abnormal Humphrey SITA 10-2 perimetry test


Abnormal fundus autofluorescence imaging


Increased OCT-measured macular thickness


Photoreceptor outer segment loss on macular OCT


Retinal pigment epithelial loss on macular OCT


Abnormal retinal morphology on macular OCT


Abnormal foveal morphology on macular OCT


Foveal photoreceptor layer loss on macular OCT


Foveal photoreceptor outer segment loss on macular OCT


Foveal retinal pigment epithelial loss on macular OCT


Foveal inner retinal layer loss on macular OCT


Intraretinal hyporeflective spaces on macular OCT


Subretinal hyporeflective spaces on macular OCT


Foveal intraretinal hyporeflective spaces on macular OCT


Foveal hyporeflective spaces on macular OCT


Foveal subretinal hyporeflective spaces on macular OCT


Perifoveal ring of hyperautofluorescence


Irregular central macular autofluorescence


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Retinal dystrophy with early macular involvement


Congenital stationary night blindness with normal fundus


Congenital stationary night blindness with abnormal fundus


Complete congenital stationary night blindness


Incomplete congenital stationary night blindness


Abnormal common tendinous ring morphology


Contracture of proximal interphalangeal joints of 2nd-5th fingers


Abnormality of cardiovascular system morphology


Abnormal morphology of myocardial trabeculae


Anomalous muscle bundle of the right ventricle


Glial remnants anterior to the optic disc


Hyaloid vascular remnant and retrolental mass


Grade I preterm intraventricular hemorrhage


Grade II preterm intraventricular hemorrhage


Grade III preterm intraventricular hemorrhage


Grade IV preterm intraventricular hemorrhage


Intrauterine fetal demise of one twin after midgestation


Modic type II vertebral endplate changes


Modic type III vertebral endplate changes


Abnormality of the protein C anticoagulant pathway


Increased circulating free fatty acid level


Abnormal circulating interleukin concentration


Increased circulating interleukin 6 concentration


Abnormal circulating C-peptide concentration


Reduced volume of central subdivision of bed nucleus of stria terminalis


Abnormality of the bed nucleus of stria terminalis


Anti-topoisomerase I antibody positivity


Increased pulmonary capillary wedge pressure


Abnormality on pulmonary function testing


Hyperintensity of cerebral white matter on MRI


Periventricular white matter hyperintensities


Deep cerebral white matter hyperintensities


Abnormal response to short acting pulmonary vasodilator


Insufficient response to short acting pulmonary vasodilator


Liver kidney microsome type 1 antibody positivity


Anti-liver cytosolic antigen type 1 antibody positivity


Exaggerated rugosity of the labia majora


Abnormality of intestinal smooth muscle morphology


Enteric intraneuronal nuclear inclusion bodies


Abnormality of cardiovascular system electrophysiology


Abnormal morphology of the great vessels


Orofacial action-specific dystonia induced by speech


Alternating radiolucent and radiodense metaphyseal lines


Abnormal insulin like growth factor binding protein acid labile subunit level


Reduced growth-hormone binding protein level


Elevated vascular endothelial growth factor level


Coarctation in the transverse aortic arch


Abnormal branching pattern of left aortic arch


Impairment of activities of daily living


Abnormal response to endocrine stimulation test


Abnormal response to ACTH stimulation test


Abnormal response to insulin tolerance test


Impaired cortisol response to insulin stimulation test


Abnormal response to corticotropin releasing hormone stimulation test


Impaired cortisol response to corticotropin releasing hormone stimulation test


Impaired growth-hormone response to insulin stimulation test


Abnormal response to glucagon stimulation test


Impaired cortisol response to glucagon stimulation test


Impaired growth-hormone response to glucagon stimulation test


Abnormal response to human chorionic gonadotrophin stimulation test


Excessive insulin response to glucagon test


Abnormal thyroid-stimulating hormone level


Decreased thyroid-stimulating hormone level


Abnormal circulating antimullerian hormone concentration


Increased circulating antimullerian hormone concentration


Decreased cirrculating antimullerian hormone circulation


Bicuspid aortic valve with right-left cusp fusion


Bicuspid aortic valve with right-noncoronary cusp fusion


Bicuspid aortic valve with left-noncoronary cusp fusion


Decreased platelet thromboxane A2 receptor


Decreased platelet alpha-2A-adrenergic receptor


Impaired convulxin-induced platelet aggregation


Impaired collagen-related peptide-induced platelet aggregation


Impaired phorbol myristate acetate-induced platelet aggregation


Impaired calcium ionophore-induced platelet aggregation


Abnormal platelet phosphatidylserine exposure


Impaired annexin V binding to platelet phosphatidylserine


Increased annexin V binding to platelet phosphatidylserine


Abnormal B-type natriuretic peptide concentration


Starry sky appearance on hepatic sonography


Increased Arden ratio of electrooculogram


Triggered by ingestion of potassium-rich food


Increased circulating NT-proBNP concentration


Abnormal circulating deoxycorticosterone level


Abnormal circulating pregnenolone concentration


Superficial dermal perivascular inflammatory infiltrate


Deep dermal perivascular inflammatory infiltrate


Abnormal morphology of left ventricular trabeculae


Abnormal morphology of right ventricular trabeculae


Increased density of left ventricular trabeculae


Apical hypertrabeculation of the left ventricle


Increased pituitary glycoprotein hormone alpha subunit level


Decreased circulating lipoprotein lipase concentration


Abnormal circulating hyaluronic acid concentration


Elevated circulating 17-hydroxyprogesterone concentration


Decreased circulating dehydroepiandrosterone concentration


Decreased circulating dehydroepiandrosterone-sulfate concentration


Inappropriate antidiuretic hormone secretion


Abnormal radioactive iodine uptake test result


Increased circulating thyroxine-binding globulin level


Predominantly epidermal neutrophilic infiltrate


Predominantly dermal neutrophilic infiltrate


Internally nucleated skeletal muscle fibers


Decreased circulating chylomicron concentration


Decreased VLDL cholesterol concentration


Anomalous origin of left subclavian artery


Arteriovenous malformation of the maxilla


Abnormal glomerular visceral epithelial cell morphology


Abnormal CD69 upregulation upon TCR activation


Decreased CD69 upregulation upon TCR activation


Abnormal CD25 upregulation upon TCR activation


Decreased CD25 upregulation upon TCR activation


Abnormal response to gonadotropin-releasing hormone stimulation test


Increased LH response to gonadotropin-releasing hormone stimulation test


Lower extremity peripheral arterial calcification


Abnormal ventricular myocardium morphology


Fatty replacement of ventricular myocardial tissue


Monoclonal light chain cardiac amyloidosis


Perivascular myocardial immune cell infiltration


Abnormal cardiomyocyte mitochondrial morphology


Abnormal cardiomyocyte connexin43 staining


Abnormal cardiomyocyte plakoglobin staining


Abnormal cardiomyocyte dystrophin staining


Dextrotransposition of the great arteries


obsolete Sex-limited autosomal recessive inheritance


Decreased lymphocyte proliferation in response to mitogen


Decreased lymphocyte proliferation in response to anti-CD3


Abnormal lymphocyte surface marker expression


Increased multinucleated megakaryocyte count


Abnormal proportion of CD4-positive T cells


Abnormal proportion of CD8-positive T cells


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


Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells


Reduced antigen-specific T cell proliferation


Impaired pathogen-specific CD8 cytoxicity


Increased proportion of CD25+ mast cells


Abnormal distribution of CD56 bright/dim natural killer cells


Reduced sex -hormone binding protein level


Small yellow foveal lesion with surrounding gray zone


Abnormal circulating beta-C-terminal telopeptide concentration


Increased circulating beta-C-terminal telopeptide concentration


Decreased circulating beta-C-terminal telopeptide concentration


Persistent repetition of words or sounds


Abnormal sex hormone-binding globulin level


obsolete Abnormal tricuspid valve morphology


Abnormal tricuspid valve annulus morphology


Abnormal tricuspid chordae tendinae morphology


Abnormal tricuspid valve leaflet morphology


Lower extremity subcutanous fat hypertrophy


Status epilepticus without prominent motor symptoms


obsolete Abnormal mitral valve morphology


Abnormal mitral valve annulus morphology


Abnormal mitral valve leaflet morphology


Abnormal regional left ventricular contraction


Reduced contraction of the left ventricular apex


Continuous spike and waves during slow sleep


Mucinous cystic neoplasm of the pancreas


Abnormal circulating thyroid hormone concentration


Abnormal cutaneous collagen fibril morphology


Increased proportion of exhausted T cells


Cauliflower deformity of dermal collagen fibrils


Passive dorsiflexion of the 5th finger more than 90 degrees


Increased theta frequency activity in EEG


Separate origin of the left anterior descending and left circumflex artery


Anomalous origin of the left circumflex artery from the right coronary artery


Abnormal dermoepidermal junction morphology


Linear IgA deposits along the epidermal basement membrane zone


Linear IgG deposits along the epidermal basement membrane zone


Linear C3 deposits along the epidermal basement membrane zone


Elevated circulating palmitoleylcarnitine concentration


Abnormally low T cell receptor excision circle level


Reduced granulocyte surface marker level


Coronary cameral fistula to right ventricle


Abnormal pulmonary valve cusp morphology


Anomalous origin of the right subclavian artery from the descending aorta


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


Anomalous origin of the left common carotid artery from the brachiocephalic artery


Anomalous origin of the right common carotid artery from the aorta


Anomalous origin of the left anterior descending artery from the pulmonary artery


Fusiform ascending tubular aorta aneurysm


Abnormal atrioventricular valve physiology


Systolic anterior motion of the mitral valve


Fixed splitting of the second heart sound


Paradoxical splitting of the second heart sound


Orthodromic atrioventricular reentrant tachycardia


Antidromic atrioventricular reentrant tachycardia


Increased stool alpha1-antitrypsin concentration


Abnormally loud pulmonic component of the second heart sound


Disseminated infection with live vaccine virus


obsolete Disseminated Bacillus Calmette-Guerin infection


Compensatory head tilt to the right shoulder


Compensatory head tilt to the left shoulder


Abnormal horizontal rectus muscle physiology


Abnormal vertical rectus muscle physiology


Abnormal lateral rectus muscle physiology


Abnormal posterior circulating artery morphology


Posterior communicating artery infundibulum


Elevated circulating apolipoprotein B concentration


Decreased circulating apolipoprotein A-I concentration


Elevated circulating apolipoprotein A-II concentration


Decreased circulating parathyroid hormone level


Abnormal hypoxanthine-guanine phosphoribosyltransferase level


Elevated hypoxanthine-guanine phosphoribosyltransferase level


Reduced hypoxanthine-guanine phosphoribosyltransferase level


Absent Birbeck granules in Langerhans cells


Abnormal circulating hepcidin concentration


Decreased circulating hepcidin concentration


Elevated circulating hepcidin concentration


obsolete Abnormal serum tryptase concentration


obsolete Decreased serum mast cell beta-tryptase concentration


Abnormal circulating selenium concentration


Abnormal total hemolytic complement activity


Increased total hemolytic complement activity


Decreased total hemolytic complement activity


Anti-mitochondrial M2 antibody positivity


Juvenile type ovarian granulosa cell tumor


Conus terminalis arteriovenous malformation


Abnormal portal venous system morphology


Elevated circulating N,N-dimethylglycine concentration


Elevated urinary N,N-dimethylglycine level


Recurrent bacterial upper respiratory tract infections


Elevated circulating aspartate aminotransferase concentration


Elevated circulating alanine aminotransferase concentration


Abnormal blood urea nitrogen concentration


Increased vertical cup-to-disc ratio - 0.6


Increased vertical cup-to-disc ratio - 0.7


Increased vertical cup-to-disc ratio - 0.8


Increased vertical cup-to-disc ratio - 0.9


Increased vertical cup-to-disc ratio - 1.0


Abnormal pulmonary thoracic imaging finding


Increased urinary excretion of galactosyl hydroxylysine


Mild malformation of cortical development


Abnormal serum bicarbonate concentration


Decreased serum bicarbonate concentration


Elevated serum bicarbonate concentration


Abnormal male urethral meatus morphology


Intralamellar mucoid extracellular matrix accumulation


Translamellar mucoid extracellular matrix accumulation


Aortic smooth muscle cell disorganization


Left ventricular outflow tract obstruction


Increased circulating surfactant protein level


Abnormal Vistech contrast sensitivity test


Abnormal Pelli Robson contrast sensitivity chart test


Abnormal peripheral nervous system physiology


Abnormal proportion of unswitched memory B cells


Increased proportion of unswitched memory B cells


Decreased proportion of unswitched memory B cells


Mycobacterium abscessus abscessus infection


Transient decreased circulating total IgG


Decreased circulating IgG subclass level


Decreased specific antibody response to vaccination


Abnormal circulating globulin concentration


Abnormal circulating metabolite concentration


Anomalous hepatic venous drainage into the left atrium


Cellular hypersensitivity to mitomycin C


Cellular hypersensitivity to diepoxybutane


Decreased low-density lipoprotein particle size


Chronic active Epstein-Barr virus infection


obsolete Abnormal cerebrospinal fluid metabolite concentration


Increased urinary type 1 collagen N-terminal telopeptide level


Abnormal circulating free T3 concentration


Increased urinary squamous epithelial cell count


Increased urinary renal tubular epithelial cell count


Increased urinary transitional epithelial cell count


Lymphocytic infiltration of the colorectal mucosa


Decreased proportion of CD4-positive T cells


Increased proportion of CD4-positive T cells


Perinuclear antineutrophil antibody positivity


Cytoplasmic antineutrophil antibody positivity


Increased circulating creatine kinase MB isoform


Increased circulating creatine kinase BB isoform


Increased circulating creatine kinase MM isoform


Increased circulating immature neutrophil count


Increased circulating metamyelocyte count


Abnormal tissue metabolite concentration


Increased circulating copper concentration


Nontuberculous mycobacterial pulmonary infection


CSF anti-NMDA receptor antibody positivity


Elevated urinary N-acetylaspartic acid level


Increased circulating N-acetylaspartic acid concentration


Increased CSF N-acetylaspartic acid concentration


Disseminated nontuberculous mycobacterial infection


Ultra-low vision with retained motion projection


Ultra-low vision with retained light projection


Ultra-low vision with retained light perception


Ultra-low vision with no light perception


Oligoclonal elevation of circulating IgG


Monoclonal elevation of IgG lambda chain


Abnormal circulating mannose-binding protein concentration


Decreased circulating mannose-binding protein concentration


Increased circulating mannose-binding protein concentration


Increased circulating procalcitonin concentration


Methicillin-resistant Staphylococcus aureus infection


Increased urinary 11-deoxycortisol level


Increased urinary 11-deoxycorticosterone level


Increased urinary 11-deoxytetrahydrocorticosterone level


Oligoclonal elevation of circulating IgM


Oligoclonal elevation of circulating IgA


Increased circulating specific IgE antibody


Oligoclonal elevation of circulating IgE


Reduced forced expiratory volume in one second


Decreased pre-bronchodilator forced vital capacity


Decreased post-bronchodilator forced vital capacity


Decreased post-bronchodilator forced expiratory volume in one second


Decreased pre-bronchodilator forced expiratory flow 25-75%


Decreased post-bronchodilator forced expiratory flow 25-75%


Increased circulating corticosterone level


Decreased circulating corticosterone level


Anti-beta 2 glycoprotein I antibody positivity


Immediate-type hypersensitivity drug reaction


Abnormal circulating transferrin concentration


Elevated circulating transferrin concentration


Reduced circulating transferrin concentration


Nodular subcortical heterotopia in peritrigonal regions


Diffuse ribbon-like subcortical heterotopia


Mesial parasagittal subcortical heterotopia


Posterior predominant subcortical band heterotopia


Anterior predominant subcortical band heterotopia


Abnormal circulating C-reactive protein concentration


Reduced circulating C-reactive protein concecntration


Abnormal dermoepidermal hemidesmosome morphology


Abnormal phosphoribosylpyrophosphate synthetase level


Decreased phosphoribosylpyrophosphate synthetase level


Anti-asialoglycoprotein receptor antibody positivity


Abnormal pituitary glycoprotein hormone alpha subunit level


Decreased pituitary glycoprotein hormone alpha subunit level


Increased circulating argininosuccinic acid


Anti-myelin oligodendrocyte glycoprotein antibody positivity


Aggravated by acetylcholinesterase inhibitor


Ameliorated by acetylcholinesterase inhibitor


obsolete Elevated circulating gamma-aminobutyric acid concentration


Decreased succinic semialdehyde dehydrogenase level


Elevated CSF gamma-aminobutyric acid concentration


Elevated CSF 4-hydroxybutyric acid concentration


Elevated circulating acetone concentration


Persistent asymmetrical tonic neck reflex


Abnormal urinary nucleobase concentration


Intracellular accumulation of Dol-PP-GlcNAc2Man5


Renal interstitial neutrophil infiltration


Renal interstitial eosinophil infiltration


Renal interstitial plasma cell infiltration


Renal tubular basement membrane denudation


Renal tubular epithelial cell detachment


Renal tubular epithelial cell cytoplasmic vacuolization


Blebbing of apical cytoplasm of renal tubular epithelial cells


Abnormal renal tubular epithelial morphology


Renal tubular epithelial cell hyaline droplets


Multinucleation of renal tubular epithelial cells


Prominent nucleoli of renal tubular epithelial cells


Renal tubular epithelial cell simplification


High renal tubular epithelial cell N/C ratio


Renal tubular epithelial cell hemosiderin


Abnormal diffusion weighted cerebral MRI morphology


Renal interstitial immunoglobulin deposits


Hyperchromasia of renal tubular epithelial cells


Renal interstitial necrotizing granulomas


Renal interstitial non-necrotizing granulomas


Renal interstitial mononuclear cell infiltration


Renal interstitial xanthogranulomatous inflammation


Elevated CSF glial fibrillary acidic protein concentration


Elevated CSF chitinase-3-like protein 1 concentration


Elevated CSF chitotriosidase 1 concentration


Impaired flow-mediated arterial dilatation


Decreased adipose tissue tocopherol level


Elevated circulating lyso-globotriaosylsphingosine concentration


Status epilepticus with prominent motor symptoms


Non-convulsive status epilepticus with coma


Generalized convulsive status epilepticus


Focal-onset seizure evolving into bilateral convulsive status epilepticus


Myoclonic status epilepticus without coma


Non-convulsive status epilepticus without coma


Focal non-convulsive status epilepticus without coma


obsolete Focal aware cognitive seizure with impaired attention


Focal aware cognitive seizure with auditory agnosia


Focal cognitive seizure with auditory agnosia


Focal aware cognitive seizure with memory impairment


Focal cognitive seizure with memory impairment


Focal aware cognitive seizure with dissociation


Focal cognitive seizure with dissociation


Focal aware cognitive seizure with dyscalculia/acalculia


Focal cognitive seizure with dyscalculia/acalculia


Focal cognitive seizure with forced thinking


Focal cognitive seizure with dyslexia/alexia


Focal cognitive seizure with receptive dysphasia/aphasia


obsolete Focal cognitive seizure with deja vu/jamais vu


Focal cognitive seizure with conduction dysphasia/aphasia


Focal cognitive seizure with dysgraphia/agraphia


Focal cognitive seizure with left-right confusion


Focal cognitive seizure with expressive dysphasia/aphasia


Focal aware cognitive seizure with illusion


Focal aware cognitive seizure with forced thinking


Focal aware cognitive seizure with left-right confusion


Focal aware cognitive seizure with dyslexia/alexia


Focal aware cognitive seizure with anomia


Focal aware cognitive seizure with dysgraphia/agraphia


Focal aware cognitive seizure with receptive dysphasia/aphasia


Focal impaired awareness motor seizure with version


Focal impaired awareness bilateral motor seizure


Focal impaired awareness non-motor seizure


Focal impaired awareness motor seizure with dystonia


Focal impaired awareness motor seizure with dysarthria/anarthria


Focal motor seizure with dysarthria/anarthria


Focal motor seizure with paresis/paralysis


Focal impaired awareness hyperkinetic seizure


Focal impaired awareness myoclonic seizure


Focal aware motor seizure with paresis/paralysis


Focal aware motor seizure with dysarthria/anarthria


Focal aware emotional seizure with anger


Focal aware emotional seizure with fear/anxiety/panic


Focal emotional seizure with fear/anxiety/panic


Focal aware emotional seizure with paranoia


Focal aware emotional seizure with pleasure


Focal aware emotional seizure with crying


Focal aware emotional seizure with agitation


Focal aware emotional seizure with laughing


Focal impaired awareness emotional seizure


Focal impaired awareness emotional seizure with pleasure


Focal impaired awareness emotional seizure with anger


Focal impaired awareness emotional seizure with paranoia


Focal impaired awareness emotional seizure with laughing


Focal impaired awareness emotional seizure with crying


Focal impaired awareness emotional seizure with fear/anxiety/panic


Focal impaired awareness emotional seizure with agitation


Focal impaired awareness autonomic seizure


Focal impaired awareness cognitive seizure


Focal sensory seizure with vestibular features


Focal sensory seizure with hot-cold sensations


Focal aware autonomic seizure with pallor/flushing


Focal autonomic seizure with pallor/flushing


Focal autonomic seizure with pupillary dilation/constriction


Focal autonomic seizure with urge to urinate/defecate


Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration


Focal autonomic seizure with piloerection


Focal aware autonomic seizure with pupillary dilation/constriction


Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration


Focal aware autonomic seizure with erection


Focal autonomic seizure with lacrimation


Focal impaired awareness autonomic seizure with piloerection


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Focal impaired awareness autonomic seizure with urge to urinate/defecate


Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration


Focal aware autonomic seizure with lacrimation


Focal impaired awareness autonomic seizure with pallor/flushing


Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Focal impaired awareness autonomic seizure with pupillary dilation/constriction


Focal impaired awareness autonomic seizure with erection


Focal aware autonomic seizure with urge to urinate/defecate


Focal impaired awareness autonomic seizure with lacrimation


Focal aware autonomic seizure with piloerection


Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Focal impaired awareness sensory seizure


Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Focal impaired awareness behavior arrest seizure


Focal impaired awareness cognitive seizure with anomia


Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia


Focal impaired awareness cognitive seizure with left-right confusion


Focal aware sensory seizure with olfactory features


Focal impaired awareness cognitive seizure with neglect


Focal impaired awareness hemiclonic seizure


Focal aware sensory seizure with vestibular features


Focal impaired awareness cognitive seizure with memory impairment


Focal impaired awareness cognitive seizure with dyscalculia/acalculia


Focal impaired awareness cognitive seizure with dysgraphia/agraphia


Focal impaired awareness sensory seizure with olfactory features


Focal impaired awareness sensory seizure with vestibular features


Focal impaired awareness sensory seizure with visual features


Neonatal seizure with electrographic correlate


Focal sensory seizure with cephalic sensation


Neonatal electro-clinical non-motor seizure


Neonatal electro-clinical clonic seizure


Neonatal electro-clinical myoclonic seizure


Neonatal electro-clinical autonomic seizure


Neonatal electro-clinical seizure with behavior arrest


Neonatal electro-clinical sequential seizure


Neonatal bilateral symmetric tonic seizure


Neonatal electro-clinical motor seizure with automatism


Neonatal seizure with bilateral asymmetric automatism


Neonatal bilateral asymmetric tonic seizure


Neonatal bilateral asymmetric myoclonic seizure


Neonatal seizure with unilateral automatism


Neonatal seizure with bilateral symmetric automatism


Neonatal bilateral symmetric myoclonic seizure


Bilateral asymmetric neonatal sequential seizure


Bilateral symmetric neonatal sequential seizure


Neonatal bilateral symmetric epileptic spasm


Neonatal bilateral asymmetric epileptic spasm


Focal impaired awareness epileptic spasm


Focal motor seizure with negative myoclonus


Focal impaired awareness hemifacial clonic seizure


Focal aware cognitive seizure with neglect


Focal aware cognitive seizure with expressive dysphasia/aphasia


Focal aware sensory seizure with visual features


Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia


Focal impaired awareness sensory seizure with hot-cold sensations


Focal aware motor seizure with negative myoclonus


Focal impaired awareness motor seizure with negative myoclonus


Focal impaired awareness motor seizure with paresis/paralysis


Generalized non-convulsive status epilepticus without coma


Focal non-convulsive status epilepticus with impairment of consciousness


Focal aware sensory seizure with auditory features


Focal non-convulsive status epilepticus without impairment of consciousness


Focal impaired awareness cognitive seizure with dyslexia/alexia


Focal aware cognitive seizure with hallucination


Focal impaired awareness cognitive seizure with illusion


Focal aware sensory seizure with cephalic sensation


Focal impaired awareness cognitive seizure with auditory agnosia


obsolete Focal impaired awareness cognitive seizure with impaired responsiveness


Focal aware cognitive seizure with conduction dysphasia/aphasia


Focal aware sensory seizure with hot-cold sensations


Focal impaired awareness sensory seizure with cephalic sensation


Focal impaired awareness seizure with dissociation at onset


Focal impaired awareness sensory seizure with auditory features


obsolete Focal aware cognitive seizure with impaired responsiveness


Focal impaired awareness cognitive seizure with deja vu/jamais vu


Focal aware cognitive seizure with deja vu/jamais vu


Focal aware sensory seizure with somatosensory features


Focal impaired awareness cognitive seizure with hallucination


Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia


Focal impaired awareness cognitive seizure with forced thinking


Focal aware sensory seizure with gustatory features


Focal impaired awareness sensory seizure with somatosensory features


Seizure precipitated by febrile infection


Febrile seizure outside the age of 3 months to 6 years


Focal impaired awareness sensory seizure with gustatory features


Focal aware undressing automatism seizure


Focal impaired awareness automatism seizure


Focal aware orofacial automatism seizure


Focal aware perseverative automatism seizure


Focal impaired awareness orofacial automatism seizure


Focal aware head nodding automatism seizure


Focal impaired awareness manual automatism seizure


Focal impaired awareness pedal automatism seizure


Focal impaired awareness perseverative automatism seizure


Focal impaired awareness vocal automatism seizure


Focal impaired awareness verbal automatism seizure


Focal impaired awareness sexual automatism seizure


Focal impaired awareness head nodding automatism seizure


Focal impaired awareness undressing automatism seizure


Elevated CSF neurofilament light chain concentration


obsolete Focal impaired awareness cognitive seizure with impaired attention


Increased circulating pancreatic triacylglycerol lipase level


Posterior crocodile shagreen of the cornea


Recurrent, involuntary and intrusive distressing memories


Recurrent trauma-related distressing dreams


Avoidance of stimuli associated with traumatic event


Renal cortical interstitial inflammation


Renal medullary interstitial inflammation


Renal interstitial calcium phosphate deposits


Renal tubular cytomegalovirus inclusions


Renal tubular herpes simplex virus inclusions


Magnesium ammonium phosphate crystalluria


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


Abnormal bronchoalveolar lavage fluid morphology


Abnormal cellular composition of bronchoalveolar fluid


Abnormal bronchoalveolar fluid protein level


Elevated bronchoalveolar lavage fluid lymphocyte proportion


Elevated bronchoalveolar lavage fluid neutrophil proportion


Lipid-laden macrophages in bronchoalveolar fluid


Hemosiderin-laden macrophages in bronchoalveolar fluid


Absent bronchoalveolar surfactant-protein C


Absent bronchoalveolar dimeric surfactant-protein B


obsolete Intraalveolar phospholipid accumulation


Dust particle inclusion in alveolar macrophages


Smoker-inclusions in alveolar macrophages


Elevated bronchoalveolar lavage fluid eosinophil proportion


Abnormal salivary metabolite concentration


Anti-U1 ribonucleoprotein antibody positivity


Anti-glomerular basement membrane-antibody positivity


Anti-citrullinated protein antibody positivity


Substantia nigra hypointensity on susceptibility-weighted imaging


Globus pallidus hypointensity on susceptibility-weighted imaging


Decreased circulating terminal complement component concentration


Decreased circulating complement C7 concentration


Decreased circulating complement C6 concentration


Decreased circulating complement C5 concentration


Renal interstitial globotriaosylceramide inclusions


Renal interstitial IgG4+ plasma cell infiltration


Inappropriately normal thyroid-stimulating hormone level


Abnormal circulating free T4 concentration


Increased circulating free T4 concentration


Decreased circulating free T4 concentration


Abnormal TSH response to thyrotrophin-releasing hormone stimulation test


Absent TSH response to thyrotrophin-releasing hormone stimulation test


Reduced TSH response to thyrotrophin-releasing hormone stimulation test


Increased circulating farnesol concentration


Increased aromatic amino acid level in urine


Increased glutamine family amino acid level in urine


Increased sulfur amino acid level in urine


Increased aspartate family amino acid level in urine


Increased urine proteinogenic amino acid derivative level


Increased urinary non-proteinogenic amino acid level


Increased serine family amino acid in urine


Increased proteinogenic amino acid level in urine


Elevated circulating D-dimer concentration


Abnormal circulating proteinogenic amino acid concentration


Abnormal circulating proteinogenic amino acid derivative concentration


Abnormal circulating non-proteinogenic amino acid concentration


Elevated circulating alpha-aminobutyric acid concentration


Elevated circulating apolipoprotein C-III concentration


Elevated right ventricular systolic pressure


Abnormality of the musculoskeletal system


Abnormal pulmonary alveolar system morphology


Elevated circulating uracil concentration


Abnormal circulating ceruloplasmin concentration


Increased circulating ceruloplasmin concentration


Elevated circulating methylsuccinic acid concentration


Abnormal circulating short-chain fatty-acid concentration


Increased circulating isovaleric acid concentration


Elevated circulating dodecenoylcarnitine concentration


Elevated circulating deoxypyridinoline concentration


Elevated circulating L-alloisoleucine concentration


Elevated circulating 3-methylhistidine concentration


Reduced respiratory ciliary beating frequency


Recurrent viral upper respiratory tract infections


Milky appearance of bronchoalveolar lavage fluid


Elevated circulating 5-oxoproline concentration


Elevated circulating suberic acid concentration


Increased circulating interleukin 8 concentration


Elevated circulating aconitic acid concentration


Increased circulating selenium concentration


Decreased circulating selenium concentration


Increased circulating interleukin 10 concentration


Increased proportion autoreactive unresponsive CD21-/low B cells


Obliterative abnormality of the renal glomerulus


Glomerular hyalinosis at the tubular pole


Glomerular hyalinosis away from the vascular and tubular poles


Abnormal glomerular parietal epithelial cell morphology


Glomerular parietal epithelial cell hyperplasia


Glomerular parietal epithelial cell hypertrophy


Abnormal glomerular mesangial cellularity


Abnormal glomerular mesangial matrix morphology


Glycogen accumulation in pulmonary interstitial cells


Abnormal alveolar type II pneumocyte morphology


Multiple pulmonary interstitial hyalinized nodules


Focal substantia nigra T2 hyperintensity


Reduced circulating interferon gamma concentration


Transphyseal fracture of the distal humerus


Abnormal glomerular capillary lumen morphology


Abnormal glomerular endothelial cell morphology


Loss of glomerular endothelial cell fenestration


Glomerular endothelial tubuloreticular inclusion


obsolete Glomerular endocapillary hypercellularity


Reduced CD95-induced lymphocyte apoptosis


Abnormal glomerular basement membrane morphology


Segmentally thickened glomerular basement membrane


Diffusely thickened glomerular basement membrane


Thickened glomerular basement membranes with no electron dense deposits


Thickened glomerular basement membranes with electron dense deposits


Multinucleated visceral epithelial cells


Abnormal circulating complement factor H related protein 1 concentration


Reduced circulating complement factor H related protein 1 concentration


Increased circulating complement factor H related protein 1 concentration


Elevated circulating 1-methylhistidine concentration


Elevated circulating 4-hydroxyphenylacetic acid concentration


Elevated urinary monocarboxylic acid level


obsolete Elevated urine 4-hydroxyphenylacetic acid level


Abnormal circulating fetuin A concentration


Decreased circulating fetuin A concentration


Increased circulating fetuin A concentration


Glomerular capillary wall duplication without cellular interposition


Glomerular capillary wall duplication with cellular interposition


Elevated circulating homovanillic acid concentration


Elevated circulating sebacic acid concentration


Elevated circulating hydroxyphenlyllactic acid concentration


Abnormal preimplantation embryonic development


Increased circulating inosine concentration


Increased circulating guanosine concentration


Elevated circulating sitosterol concentration


Elevated forced expiratory volume in one second


Elevated circulating o-phosphoserine concentration


Elevated circulating stearoylcarnitine concentration


Elevated circulating palmitoylcarnitine concentration


Decreased compound muscle action potential amplitude


Elevated urinary collagen degradation products


Abnormal circulating collagen degradation product concentration


Elevated circulating pyridinoline concentration


Perivascular pre-capillary pulmonary artery inflammation


Anti-carbonic anhydrase II antibody positivity


Abnormal circulating organic amino compound concentration


Elevated circulating o-phosphoethanolamine concentration


Elevated circulating acetoacetic acid concentration


Elevated circulating cartilage oligomeric matrix protein concentration


Elevated circulating hydroxybutyric acid concentration


Elevated circulating 2-hydroxybutyric acid concentration


Elevated circulating 3-hydroxybutyric acid concentration


Pulmonary arterial hypertension with positive acute response to NO challenge


Pulmonary arterial hypertension with lack of acute response to NO challenge


Abnormal circulating keto acid concentration


Elevated circulating 3-methyl-2-oxovaleric acid concentration


Elevated circulating 4-methyl-2-oxopentanoic acid concentration


Elevated circulating myoglobin concentration


Elevated circulating decenoylcarnitine concentration


Elevated circulating octenoylcarnitine concentration


Elevated circulating hexanoylcarnitine concentration


Elevated circulating glutarylcarnitine concentration


Elevated circulating propionylcarnitine concentration


Elevated circulating dodecanoylcarnitine concentration


Reduced circulating acylcarnitine concentration


Elevated circulating butyrylcarnitine concentration


Elevated circulating isovalerylcarnitine concentration


Abnormal circulating prealbumin concentration


Increased circulating prealbumin concentration


Decreased circulating prealbumin concentration


obsolete Elevated urinary dicarboxylic acid level


Elevated urine 3-methyl-2-oxovaleric acid level


Elevated urine 4-methyl-2-oxopentanoic acid level


Decreased circulating apolipoprotein concentration


Increased circulating apolipoprotein circulation


Elevated circulating 3-hydroxylinoleylcarnitine concentration


Elevated circulating oleylcarnitine concentration


obsolete Elevated circulating palmitoleylcarnitine concentration


Elevated circulating 3-hydroxypalmitoleylcarnitine concentration


Elevated circulating tetradecanoylcarnitine concentration


Abnormal circulating lipoprotein lipase concentration


Increased circulating lipoprotein lipase concentration


Abnormal circulating bilirubin concentration


Elevated circulating linoleylcarnitine concentration


Abnormal glomerular basement membrane texture


Glomerular basement membranes powdery deposit


Glomerular endocapillary leukocyte hypercellularity


Glomerular endocapillary neutrophil hypercellularity


Glomerular endocapillary foam-cell hypercellularity


Glomerular basement membrane amyloid spicule


Tip variant segmental glomerulosclerosis


Segmental glomerulosclerosis away from the vascular and tubular poles


Glomerular basement membrane electron dense deposits


Subendothelial glomerular basement membrane electron dense deposits


Subepithelial glomerular basement membrane electron dense deposits


Abnormal esterified to free carnitine ratio


Elevated circulating fumarate concentration


Increased esterified to free carnitine ratio


Decreased esterified to free carnitine ratio


Abnormal sperm principal piece morphology


Absent sperm axoneme central pair complex


Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio


Increased circulating brain natriuretic peptide concentration


Anti-bactericidal/permeability-increasing protein antibody positivity


Anti-tissue transglutaminase antibody positivity


Anti-epidermal transglutaminase antibody positivity


Decreased growth hormone responses to growth hormone-releasing hormone challenge


Compound motor action potential abnormality


Absent peripheral lymph nodes in presence of infection


Pulmonary interstitial lymphocyte infiltration


Fibrotic non-specific interstitial pneumonia


Cellular non-specific interstitial pneumonia


Elevated circulating globotriaosylceramide concentration


Elevated urinary 3-methylcrotonylglycine level


Decreased mucosal sucrase-isomaltase activity


Fibrillar glomerular subepithelial deposits


Glomerular amyloid subepithelial deposits


Fibrillary glomerular subepithelial deposits


Glomerular subepithelial immune-complex deposits


Glomerular hyaline subepithelial deposits


Bone marrow arrest at the promyelocytic stage


Increased non-HDL cholesterol concentration


Combined pre- and post-capillary pulmonary hypertension


Increased circulating very long-chain fatty acid concentration


Elevated circulating erythropoietin concentration


Diminished health-related quality of life


Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Anti-signal recognition particle antibody positivity


EEG with frontal epileptiform discharges


EEG with temporal epileptiform discharges


EEG with central epileptiform discharges


EEG with parietal epileptiform discharges


EEG with occipital epileptiform discharges


EEG with centrotemporal epileptiform discharges


Abnormal cerebral venous sinus morphology


Dysplasia of the superior cerebellar vermis


Abnormal left ventricular end-diastolic volume


Increased left ventricular end-diastolic volume


Decreased left ventricular end-diastolic volume


Impaired renal tubular reabsorption of magnesium


Abnormal single motor unit action potential


Impaired renal tubular reabsorption of uric acid


Abnormal circulating sex hormone concentration


Abnormal epidermis stratum granulosum morphology


Increased circulating 17 hydroxypregnenolone concentration


Decreased circulating dihydrotestosterone concentration


Abnormal circulating androstenedione concentration


Decreased circulating androstenedione concentration


Elevated circulating soluble CD25 concentration


Abnormal interlobular vein lumen morphology


Cholesterol emboli within interlobular vein lumen


Intraluminal thrombi within interlobular veins


Organized thrombi within interlobular vein lumen


Abnormal peritubular capillary morphology


Abnormal cortical peritubular capillary morphology


Multilamellation of cortical peritubular capillary basement membranes


Abnormal cortical peritubular capillary lumen morphology


Abnormal medullary peritubular capillary morphology


Medullary peritubular capillary erythrocyte congestion


Multilamellation of medullary peritubular capillary basement membranes


Abnormal medullary peritubular capillary lumen morphology


Medullary peritubular capillary lumen cholesterol emboli


Medullary peritubular capillary intraluminal thrombi


Medullary peritubular capillary lumen organized thrombi


Cortical peritubular capillary lumen cholesterol emboli


Cortical peritubular capillary intraluminal thrombi


Cortical peritubular capillary lumen organized thrombi


Abnormal arcuate vein intima/media morphology


Arcuate vein intimal/medial myxomatous degeneration


Abnormal cortical radial artery morphology


Abnormal cortical radial artery lumen morphology


Cortical radial artery lumen cholesterol emboli


Abnormal arcuate artery intima/media morphology


Cortical radial artery intimal/medial amyloidosis


Abnormal cortical radial artery intima/media morphology


Abnormal renal arteriole lumen morphology


Renal arteriolar lumen cholesterol emboli


Abnormal renal arteriole intima/media morphology


Renal arteriolar lumen organized thrombi


Abnormal renal arteriole endothelium morphology


Abnormal arcuate artery lumen morphology


Renal arteriole intima/media amyloidosis


Abnormal arcuate artery endothelium morphology


Arcuate artery endoarterial hypercellularity


Arcuate artery intima/media arteriosclerosis


Renal arteriole intima/media arteriolosclerosis


Cortical radial artery medial hypertrophy


Cortical radial artery medial/intimal arteriitis


Renal arteriole intima/media storage material accumulation


Renal arteriole endoarterial hypercellularity


Renal arteriole leukocytic endoarterial hypercellularity


Renal arteriole foam cell endoarterial hypercellularity


Renal arteriole neutrophil endoarterial hypercellularity


Renal arteriole lymphocyte endoarterial hypercellularity


Renal arteriole intimal/medial multilamellation


Arcuate artery endoarterial leukocyte hypercellularity


Arcuate artery endoarterial foam cell hypercellularity


Arcuate artery endoarterial neutrophil hypercellularity


Arcuate artery endoarterial lymphocyte hypercellularity


Arcuate artery intima/media coagulative necrosis


Arcuate artery intima/media liquefactive necrosis


Arcuate vein intimal/medial storage material accumulation


Cortical radial artery intima/media necrosis


Cortical radial artery intima/media liquefactive necrosis


Cortical radial artery intima/media coagulative necrosis


Renal arteriole intima/media liquefactive necrosis


Renal arteriole intima/media coagulative necrosis


Granulomatous arteriolitis of the arteriolar intima/media


Arcuate vein medial/intimal coagulative necrosis


Arcuate vein medial/intimal liquefactive necrosis


Arcuate intimal/medial granulomatous venulitis


Arcuate vein intima/media crystal accumulation


Renal arteriole intima/media crystal accumulation


Arcuate artery intima/media granulomatous arteriitis


Cortical radial artery intraluminal thrombi


Cortical radial artery intraluminal organized thrombi


Abnormal cortical radial artery endothelium morphology


Cortical radial artery leukocyte hypercellularity


Cortical radial artery lymphocyte hypercellularity


Cortical radial artery neutrophil hypercellularity


Cortical radial artery foam cell hypercellularity


Cortical radial artery intima/media arteriosclerosis


Cortical radial artery intimal mucoid edema


Cortical radial artery intima/media multilamellation


Cortical radial artery medial/intimal granulomatous arteriitis


Abnormal interlobular vein intima/media morphology


Interlobular vein intima/media amyloidosis


Interlobular vein intima/media venulitis


Interlobular vein intima/media granulomatous venulitis


Interlobular vein intima/media liquefactive necrosis


Interlobular vein intima/media coagulative necrosis


Interlobular vein intima/media multilamellation


Decreased circulating apolipoprotein C-II concentration


Increased urinary 8-oxo-7,8-dihydroguanosine level


Microvillar PAS-positive secretory granules


Anti-Complement factor H antibody positivity


Anti-phospholipase A2 receptor antibody positivity


Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio


Increased megakaryocyte colony forming unit count


Elevated circulating sacchoropine concentration


Abnormal urinary non-proteinogenic amino acid level


Decreased circulating chenodeoxycholic acid concentration


Elevated urinary prostaglandin E2 metabolite level


Hypoplastic anterior limbs of the internal capsule


Anti-side-chain cleavage enzyme antibody positivity


Anti-steroid 17alpha-hydroxylase antibody positivity


Anti-islet antigen-2 antibody positivity


Anti-salivary protein antibody positivity


Anti-Zinc transporter 8 antibody positivity


Anti-carbonic anhydrase VI antibody positivity


Anti-plasminogen binding peptide antibody positivity


Anti-parotid secretory protein antibody positivity


Decreased circulating apolipoprotein B concentration


Anti-complement component C1q antibody positivity


Anti-centromere protein A antibody positivity


Anti-centromere protein B antibody positivity


Anti-nucleolus-organizing region antibody positivity


Anti-phosphatidyl ethanolamine antibody positivity


Anti-platelet derived growth factor receptor


Anti-cyclic citrullinated peptide antibody positivity


Anti-angiotensin receptor type-1 antibody positivity


Anti-endothelin-1 type A receptor antibody positivity


Anti-phosphatidic acid antibody positivity


Anti-phosphatidyl choline antibody positivity


Anti-phosphatidyl glycerol antibody positivity


Anti-phosphatidyl inositol antibody positivity


Anti-phosphatidyl serine antibody positivity


Anti-neutrophil elastase antibody positivity


Anti-transcription intermediary factor-1gamma antibody positivity


Anti-Su antigen/argonaute 2 antibody positivity


Anti-Y-box protein-1 antibody positivity


Anti-Gerbich phenotype 1 antibody positivity


obsolete Anti-type I liver-kidney microsomal antibody positivity


Anti-Kelch like protein 12 antibody positivity


Anti-angiotensin-converting enzyme 2 antibody positivity


Anti-neurofascin 186 antibody positivity


Anti-contactin-associated protein 1 antibody positivity


Anti-SUMO-activating enzyme antibody positivity


Anti-SUMO-activating enzyme subunit 1 antibody positivity


Anti-SUMO-activating enzyme subunit 2 antibody positivity


Anti-nuclear matrix protein-2 antibody positivity


Anti-threonyl-tRNA synthetase antibody positivity


Anti-alanyl-tRNA synthetase antibody positivity


Anti-glycyl tRNA-synthetase antibody positivity


Anti-aminoacyl-tRNA synthetase antibody positivity


Anti-isoleucyl tRNA-synthetase antibody positivity


Anti-phenylalanyl tRNA synthetase antibody positivity


Anti-tyrosyl-tRNA synthetase antibody positivity


Anti-asparaginyl-tRNA synthetase antibody positivity


Anti-histidyl tRNA synthetase antibody positivity


Anti-beta-2-Glycoprotein I IgG antibody positivity


Anti-beta-2-Glycoprotein I IgM antibody positivity


Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity


Abnormal circulating interleukin 9 concentration


Reduced circulating interleukin 9 concentration


Abnormal circulating interleukin 10 concentration


Reduced circulating interleukin 10 concentration


Abnormal circulating interleukin 21 concentration


Reduced circulating interleukin 21 concentration


Increased circulating interleukin 21 concentration


Abnormal circulating interleukin 22 concentration


Reduced circulating interleukin 22 concentration


Increased circulating interleukin 22 concentration


Abnormal circulating interleukin 23 concentration


Reduced circulating interleukin 23 concentration


Increased circulating interleukin 23 concentration


Abnormal circulating interleukin 27 concentration


Reduced circulating interleukin 27 concentration


Increased circulating interleukin 27 concentration


Abnormal circulating interleukin 17A concentration


Reduced circulating interleukin 17A concentration


Increased circulating interleukin 17A concentration


Increased insulin like growth factor binding protein acid labile subunit concentration


Anti-thyroid-stimulating hormone receptor antibody positivity


Abnormal fetal cardiovascular physiology


Elevated fetal middle cerebral artery peak systolic velocity


Abnormal CSF homovanillic acid concentration


Increased CSF homovanillic acid concentration


Abnormal iduronate sulfatase concentration


Decreased circulating C1-esterase inhibitor concentration


Abnormal fetal central nervous system morphology


Abnormal fetal gastrointestinal system morphology


Fetal intraventricular hemorrhage without ventriculomegaly


Sonographic non-visualized fetal bladder


Fetal intraventricular hemorrhage with ventriculomegaly


Fetal intraventricular hemorrhage with periventricular hemorrhage


Absent end-diastolic umbilical artery flow


Reversed end-diastolic umbilical artery flow


Abnormal fetal genitourinary system morphology


Elevated circulating thymidine concentration


Elevated circulating deoxyuridine concentration


Increased fecal protoporphyrin concentration


Elevated circulating reverse T3 concentration


Elevated circulating tiglylglycine concentration


Elevated circulating creatine concentration


Reduced circulating creatine concentration


Elevated urine 3,5,6-trichloro-2-pyridinol level


Elevated circulating tetracosanoic acid concentration


Elevated circulating hexacosanoic acid concentration


Decreased acid sphingomyelinase activity


Elevated left ventricular end-diastolic diameter


Hyperdynamic left ventricular ejection fraction


Abnormal left ventricular ejection fraction


Thinning of the substantia nigra pars compacta


CNS vasculitis with reactivation of varicella-zoster virus


Muscle fiber intracytoplasmic reducing inclusion bodies


Elevated circulating guanidinoacetic acid concentration


Reduced circulating growth hormone concentration


Posterior corneal stroma punctiform multicolored opacities


Increased circulating hypoxanthine concentration


Impaired renal tubular reabsorption of low molecular weight protein


Impaired renal tubular reabsorption of glucose


Impaired renal tubular reabsorption of sodium


Impaired renal tubular reabsorption of phosphate


Fibrofatty replacement of right ventricular myocardium


Elevated circulating alpha-aminoadipic semialdehyde concentration


Decreased level of coenzyme Q10 in skeletal muscle


Abnormal muscle tissue metabolite concentration


Reduced circulating prekallikrein concentration


Single atrioventricular valve regurgitation


obsolete Vascular granular osmiophilic material deposition


Juvenile type testicular granulosa cell tumor


Elevated circulating biliverdin concentration


Elevated circulating insulin:C-peptide ratio


Abnormal left ventricular endsystolic diameter


Reduced left ventricular endsystolic diameter


Circumferential skin creases on extremities


Subcutaneous panniculitis-like T-cell lymphoma


Elevated CSF angiotensin-converting enzyme concentration


Reduced circulating 3-ketoacyl-CoA thiolase concentration


Ameliorated by ultraviolet light exposure


Decreased circulating aspartic acid concentration


Abnormal circulating erythropoietin concentration


Reduced circulating erythropoietin concentration


Elevated circulating histamine concentration


Increased circulating interleukin 18 concentration


Abnormal phytanic acid:pristanic acid ratio


Increased phytanic acid:pristanic acid ratio


Decreased phytanic acid:pristanic acid ratio


Elevated circulating glutathione concentration


Elevated urinary phenylpyruvic acid level


Increased CSF L-alloisoleucine concentration


Increased fecal coproporphyrin III:coproporphyrin I ratio


Positive fecal Clostridium botulinum test


Reduced circulating interleukin 7 concentration


Increased circulating interleukin 12 concentration


Increased circulating interleukin 13 concentration


Increased circulating interleukin 2 concentration


Increased circulating interleukin 4 concentration


Increased circulating interleukin 5 concentration


Transitional-cell carcinoma of the ureter


Increased circulating Interferon-alpha concentration


Muscle fiber fuchsinophilic inclusion bodies


Esophageal myenteric plexus degeneration


Abnormal enzyme activity in muscle tissue


Reduced muscle phosphoglycerate kinase activity


Reduced fibroblast type III procollagen synthesis


Reduced muscle myoadenylate deaminase activity


Triggered by monoamine oxidase inhibitor


Triggered by serotonin reuptake inhibitor


Decreased delta-aminolevulinate dehydratase activity


Elevated circulating pancreatic secretory trypsin inhibitor activity


Small intestinal lymphoplasmacytic infiltrate


Reduced sulfide:quinone oxidoreductase activity


Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level


Aplasia of posterior communicating artery


Reduced epidermal keratin 10 protein expression


Reduced epidermal collagen IV protein expression


Reduced epidermal bullous pemphigoid antigen 1 protein expression


Reduced epidermal collagen VII protein expression


Reduced epidermal collagen XVII protein expression


Reduced epidermal integrin alpha6beta4 protein expression


Reduced epidermal plectin protein expression


Increased circulating dehydroepiandrosterone-sulfate concentration


Abnormal circulating thyroxine-binding globulin concentration


Decreased circulating thyroxine-binding globulin concentration


Elevated circulating beta-aminoisobutyric acid concentration


Elevated circulating dihydrouracil concentration


Elevated circulating dihydrothymine concentration


Elevated circulating N-carbamyl-beta-alanine concentration


Elevated ciculating 5-hydroxymethyluracil concentration


Decreased circulating biotin concentration


Elevated circulating thrombopoietin concentration


Decreased circulating apolipoprotein A-II concentration


Elevated circulating CA19-9 concentration


Elevated circulating porphyrin concentration


Decreased circulating 17-hydroxyprogesterone concentration


Decreased circulating transcobalamin II concentration


Decreased circulating myo-inositol concentration


Elevated circulating arabitol concentration


Elevated circulating erythritol concentration


Reduced circulating matrix metalloproteinase 2 concentration


Abnormal circulating coenzyme concentration


Elevated circulating S-adenosyl methionine concentration


Abnormal circulating membrane cofactor protein concentration


Decreased circulating membrane cofactor protein concentration


Elevated circulating membrane cofactor protein concentration


Muscle fiber granulofilamentous inclusion bodies


Elevated urine N-acetylaspartic acid level


Elevated urine phenylpropionylglycine level


Elevated urine 2-methylacetoacetic acid level


Elevated urine 3-hydroxypropionic acid level


Elevated urine 2-methylcitric acid level


Elevated urine 4-hydroxyisovaleric acid level


Elevated urine 2-hydroxy-3-methylvaleric acid level


Abnormal enzyme concentration or activity


Abnormal liver enzyme activity or concentration


Reduced peroxisomal glutaryl-CoA oxidase activity


Reduced short-chain acyl-CoA dehydrogenase activity


Reduced 3-phosphoglycerate dehydrogenase activity


Reduced hepatic methionine adenosyltransferase activity


Substantia nigra dopaminergic neuron loss


Reduced hepatic D-glycerate kinase activity


Hepatic melanin-like lysosomal pigmentation


Reduced uroporphyrinogen decarboxylase activity


Cerebral cortex swollen achromatic neurons


Elevated circulating pristanic acid concentration


Elevated CSF hydroxyproline concentration


Elevated circulating S-adenosyl-L-homocysteine concentration


Elevated circulating S-adenosyl-L-methionine concentration


Elevated CSF argininosuccinic acid concentration


Elevated CSF aspartylglucosamine concentration


Elevated circulating alpha-oxoadipic acid concentration


Abnormal erythrocyte metabolite concentration


Reduced erythrocyte glutathione concentration


Elevated circulating homoarginine concentration


Elevated urinary formiminoglutamic acid level


Elevated circulating S-sulfocysteine concentration


Reduced epidermal extracellular matrix protein 1 protein expression


Muscle fiber polyglucosan inclusion bodies


Increased activity of mitochondrial respiratory chain


Aplasia/Hypoplasia of the fifth metatarsal bone


Abnormality of the second metatarsal bone


Abnormality of the fourth metatarsal bone


obsolete Aplasia of the left hemidiaphragm


obsolete Abnormal morphology of bones of the upper limbs


obsolete Abnormal morphology of bones of the lower limbs


Obsolete Abnormal forearm bone morphology


obsolete Abnormal concentration of calcium in blood


Abnormal circulating creatine kinase concentration


Cutaneous atresia of the external auditory canal


Osseous atresia of the external auditory canal


Cutaneous stenosis of the external auditory canal


Osseous stenosis of the external auditory canal


Morphological abnormality of the lateral semicircular canal


Morphological abnormality of the posterior semicircular canal


Morphological abnormality of the anterior semicircular canal


Morphological abnormality of the utricle


Morphological abnormality of the saccule


obsolete Bilateral external ear deformity


Old-aged sensorineural hearing impairment


Absence of the reflex of the tensor tympani muscle


Unilateral conductive hearing impairment


Abnormality of the reflex of the tensor tympani muscle


Impairment of the reflex of the tensor tympani muscle


Abnormal motor nerve conduction velocity


Abnormal sensory nerve conduction velocity


Abnormal circulating ferritin concentration


Decreased serum testosterone concentration


Abnormality of extrinsic muscle of tongue


Platelet-activating factor acetylhydrolase deficiency


Abnormal circulating phospholipid concentration


Abnormal level of platelet-activating factor


Increased level of platelet-activating factor


Decreased level of platelet-activating factor


Abnormal circulating neopterin concentration


Abnormal circulating biopterin concentration


Abnormal circulating insulin concentration


obsolete Abnormal circulating insulin level


Decrease in high molecular weight von Willebrand factor Multimers


Decreased level of histidine-rich glycoprotein


Decreased level of tissue plasminogen activator


Increased plasma vitamin K epoxide after vitamin K supplementation


Increased ratio of VWF propeptide to VWF antigen


Reduced plasminogen activator inhibitor 1 activity


Reduced plasminogen activator inhibitor 1 antigen


Abnormal size of nasopharyngeal adenoids


Decreased size of nasopharyngeal adenoids


Increased size of nasopharyngeal adenoids


Hyperintensity of MRI T2 signal of the spinal cord


obsolete Abnormality of skeletal muscles


Decreased circulating free fatty acid level


Abnormal circulating free fatty acid concentration


Abnormal morphology of the olfactory bulb


Focal hyperintensity of cerebral white matter on MRI


Multifocal hyperintensity of cerebral white matter on MRI


Confluent hyperintensity of cerebral white matter on MRI


Focal hypointensity of cerebral white matter on MRI


Multifocal hypointensity of cerebral white matter on MRI


Confluent hypointensity of cerebral white matter on MRI


Decreased expression of GPI-anchored proteins on the cell surface


obsolete Fractured thoracic segment of trunk


Chronic partially decreased circulating IgG4


Chronic partially decreased circulating IgG2


Chronic partially decreased circulating IgG1


Chronic partially decreased circulating IgG3


Abnormal immunoglobulin level in body fluid


Increased immunoglobulin level in body fluid


Decreased immunoglobulin level in body fluid


Abnormal proportion of exhausted T cells


obsolete Avulsion fractured pelvic region of trunk


Decreased middle cerebral artery pulsatility index


Fractured epiphysis of fifth metacarpal bone


obsolete Fractured pelvic region of trunk


Fractured distal phalanx of manual digit 2


Fractured distal phalanx of manual digit 3


Fractured distal phalanx of manual digit 4


Fractured distal phalanx of manual digit 5


Fractured distal phalanx of pedal digit 1


Fractured distal phalanx of pedal digit 3


Fractured middle phalanx of manual digit 2


Fractured middle phalanx of manual digit 3


Fractured middle phalanx of manual digit 4


Fractured middle phalanx of manual digit 5


Fractured middle phalanx of pedal digit 3


Fractured proximal phalanx of pedal digit 1


Fractured proximal phalanx of manual digit 1


Fractured epiphysis of second metacarpal bone


Fractured epiphysis of third metacarpal bone


Fractured epiphysis of fourth metacarpal bone


Fractured epiphysis of first metatarsal bone


Fractured epiphysis of second metatarsal bone


Fractured epiphysis of third metatarsal bone


Fractured proximal epiphysis of first metacarpal bone


Fractured proximal epiphysis of middle phalanx of manual digit 3


Fractured epiphysis of middle phalanx of manus


Fractured distal epiphysis of distal phalanx of manual digit 1


obsolete Fractured skeleton of manual acropodium


Abnormal ossification of the trapezoid bone


obsolete Abnormal morphology of the radius


Abnormal peripheral nerve morphology by anatomical site


Decreased urine bicarbonate concentration


Decreased urinary catecholamine concentration


obsolete Decreased urinary glucose concentration


obsolete Elevated serum long-chain fatty acids


Congenital malformation of the left heart


Osteolysis involving bones of the upper limbs


Decreased circulating complement C4 concentration


Decreased circulating complement C4a concentration


Decreased circulating complement C4b concentration


Elevated circulating acylcarnitine concentration


Reduced insulin like growth factor binding protein acid labile subunit concentration


Abnormality of the brachial nerve plexus


Abnormality of the lumbosacral nerve plexus


Abnormal circulating alpha-fetoprotein concentration


Decreased circulating alpha-fetoprotein concentration


Aplasia/hypoplasia involving bones of the extremities


Decreased proportion of CD3-positive T cells


Neoplasm of the peripheral nervous system


Fragmentation of the epiphyses of the 2nd toe


Stippling of the epiphyses of the 2nd toe


Fragmentation of the epiphyses of the 3rd toe


Stippling of the epiphyses of the 3rd toe


Fragmentation of the epiphyses of the 4th toe


Stippling of the epiphyses of the 4th toe


Fragmentation of the epiphyses of the 5th toe


Stippling of the epiphyses of the 5th toe


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


Abnormality of the epiphysis of the middle phalanx of the 2nd toe


Abnormality of the epiphysis of the proximal phalanx of the 2nd toe


Abnormality of the epiphysis of the distal phalanx of the 3rd toe


Abnormality of the epiphysis of the middle phalanx of the 3rd toe


Abnormality of the epiphysis of the proximal phalanx of the 3rd toe


Abnormality of the epiphysis of the distal phalanx of the 4th toe


Abnormality of the epiphysis of the middle phalanx of the 4th toe


Abnormality of the epiphysis of the proximal phalanx of the 4th toe


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


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


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


Absent epiphysis of the distal phalanx of the 2nd toe


Bracket epiphysis of the distal phalanx of the 2nd toe


Cone-shaped epiphysis of the distal phalanx of the 2nd toe


Enlarged epiphysis of the distal phalanx of the 2nd toe


Fragmentation of the epiphysis of the distal phalanx of the 2nd toe


Irregular epiphysis of the distal phalanx of the 2nd toe


Ivory epiphysis of the distal phalanx of the 2nd toe


Pseudoepiphysis of the distal phalanx of the 2nd toe


Small epiphysis of the distal phalanx of the 2nd toe


Stippling of the epiphysis of the distal phalanx of the 2nd toe


Triangular epiphysis of the distal phalanx of the 2nd toe


Absent epiphysis of the middle phalanx of the 2nd toe


Bracket epiphysis of the middle phalanx of the 2nd toe


Cone-shaped epiphysis of the middle phalanx of the 2nd toe


Enlarged epiphysis of the middle phalanx of the 2nd toe


Fragmentation of the epiphysis of the middle phalanx of the 2nd toe


Irregular epiphysis of the middle phalanx of the 2nd toe


Ivory epiphysis of the middle phalanx of the 2nd toe


Pseudoepiphysis of the middle phalanx of the 2nd toe


Small epiphysis of the middle phalanx of the 2nd toe


Stippling of the epiphysis of the middle phalanx of the 2nd toe


Triangular epiphysis of the middle phalanx of the 2nd toe


Absent epiphysis of the proximal phalanx of the 2nd toe


Bracket epiphysis of the proximal phalanx of the 2nd toe


Cone-shaped epiphysis of the proximal phalanx of the 2nd toe


Enlarged epiphysis of the proximal phalanx of the 2nd toe


Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe


Irregular epiphysis of the proximal phalanx of the 2nd toe


Ivory epiphysis of the proximal phalanx of the 2nd toe


Pseudoepiphysis of the proximal phalanx of the 2nd toe


Small epiphysis of the proximal phalanx of the 2nd toe


Stippling of the epiphysis of the proximal phalanx of the 2nd toe


Triangular epiphysis of the proximal phalanx of the 2nd toe


Absent epiphysis of the distal phalanx of the 3rd toe


Bracket epiphysis of the distal phalanx of the 3rd toe


Cone-shaped epiphysis of the distal phalanx of the 3rd toe


Enlarged epiphysis of the distal phalanx of the 3rd toe


Fragmentation of the epiphysis of the distal phalanx of the 3rd toe


Irregular epiphysis of the distal phalanx of the 3rd toe


Ivory epiphysis of the distal phalanx of the 3rd toe


Pseudoepiphysis of the distal phalanx of the 3rd toe


Small epiphysis of the distal phalanx of the 3rd toe


Stippling of the epiphysis of the distal phalanx of the 3rd toe


Triangular epiphysis of the distal phalanx of the 3rd toe


Absent epiphysis of the middle phalanx of the 3rd toe


Bracket epiphysis of the middle phalanx of the 3rd toe


Cone-shaped epiphysis of the middle phalanx of the 3rd toe


Enlarged epiphysis of the middle phalanx of the 3rd toe


Fragmentation of the epiphysis of the middle phalanx of the 3rd toe


Irregular epiphysis of the middle phalanx of the 3rd toe


Ivory epiphysis of the middle phalanx of the 3rd toe


Pseudoepiphysis of the middle phalanx of the 3rd toe


Small epiphysis of the middle phalanx of the 3rd toe


Stippling of the epiphysis of the middle phalanx of the 3rd toe


Triangular epiphysis of the middle phalanx of the 3rd toe


Absent epiphysis of the proximal phalanx of the 3rd toe


Bracket epiphysis of the proximal phalanx of the 3rd toe


Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


Enlarged epiphysis of the proximal phalanx of the 3rd toe


Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe


Irregular epiphysis of the proximal phalanx of the 3rd toe


Ivory epiphysis of the proximal phalanx of the 3rd toe


Pseudoepiphysis of the proximal phalanx of the 3rd toe


Small epiphysis of the proximal phalanx of the 3rd toe


Stippling of the epiphysis of the proximal phalanx of the 3rd toe


Triangular epiphysis of the proximal phalanx of the 3rd toe


Absent epiphysis of the distal phalanx of the 4th toe


Bracket epiphysis of the distal phalanx of the 4th toe


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


Enlarged epiphysis of the distal phalanx of the 4th toe


Fragmentation of the epiphysis of the distal phalanx of the 4th toe


Irregular epiphysis of the distal phalanx of the 4th toe


Ivory epiphysis of the distal phalanx of the 4th toe


Pseudoepiphysis of the distal phalanx of the 4th toe


Small epiphysis of the distal phalanx of the 4th toe


Stippling of the epiphysis of the distal phalanx of the 4th toe


Triangular epiphysis of the distal phalanx of the 4th toe


Absent epiphysis of the middle phalanx of the 4th toe


Bracket epiphysis of the middle phalanx of the 4th toe


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


Enlarged epiphysis of the middle phalanx of the 4th toe


Fragmentation of the epiphysis of the middle phalanx of the 4th toe


Irregular epiphysis of the middle phalanx of the 4th toe


Ivory epiphysis of the middle phalanx of the 4th toe


Pseudoepiphysis of the middle phalanx of the 4th toe


Small epiphysis of the middle phalanx of the 4th toe


Stippling of the epiphysis of the middle phalanx of the 4th toe


Triangular epiphysis of the middle phalanx of the 4th toe


Absent epiphysis of the proximal phalanx of the 4th toe


Bracket epiphysis of the proximal phalanx of the 4th toe


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


Enlarged epiphysis of the proximal phalanx of the 4th toe


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


Irregular epiphysis of the proximal phalanx of the 4th toe


Ivory epiphysis of the proximal phalanx of the 4th toe


Pseudoepiphysis of the proximal phalanx of the 4th toe


Small epiphysis of the proximal phalanx of the 4th toe


Stippling of the epiphysis of the proximal phalanx of the 4th toe


Triangular epiphysis of the proximal phalanx of the 4th toe


Absent epiphysis of the distal phalanx of the 5th toe


Bracket epiphysis of the distal phalanx of the 5th toe


Cone-shaped epiphysis of the distal phalanx of the 5th toe


Enlarged epiphysis of the distal phalanx of the 5th toe


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


Irregular epiphysis of the distal phalanx of the 5th toe


Ivory epiphysis of the distal phalanx of the 5th toe


Pseudoepiphysis of the distal phalanx of the 5th toe


Small epiphysis of the distal phalanx of the 5th toe


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


Triangular epiphysis of the distal phalanx of the 5th toe


Absent epiphysis of the middle phalanx of the 5th toe


Bracket epiphysis of the middle phalanx of the 5th toe


Cone-shaped epiphysis of the middle phalanx of the 5th toe


Enlarged epiphysis of the middle phalanx of the 5th toe


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


Irregular epiphysis of the middle phalanx of the 5th toe


Ivory epiphysis of the middle phalanx of the 5th toe


Pseudoepiphysis of the middle phalanx of the 5th toe


Small epiphysis of the middle phalanx of the 5th toe


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


Triangular epiphysis of the middle phalanx of the 5th toe


Absent epiphysis of the proximal phalanx of the 5th toe


Bracket epiphysis of the proximal phalanx of the 5th toe


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


Enlarged epiphysis of the proximal phalanx of the 5th toe


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


Irregular epiphysis of the proximal phalanx of the 5th toe


Ivory epiphysis of the proximal phalanx of the 5th toe


Pseudoepiphysis of the proximal phalanx of the 5th toe


Small epiphysis of the proximal phalanx of the 5th toe


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


Triangular epiphysis of the proximal phalanx of the 5th toe


Synostosis involving bones of the upper limbs


Abnormality of the medullary cavity of the long bones


Stenosis of the medullary cavity of the long bones


Abnormality of dorsoventral patterning of the limbs


EMG: continuous motor unit activity at rest


EMG: impaired neuromuscular transmission


Abnormality of pattern reversal visual evoked potentials


Abnormality of peripheral somatosensory evoked potentials


Abnormality of central somatosensory evoked potentials


Muscle fiber cytoplasmatic inclusion bodies


Muscle fiber intranuclear inclusion bodies


Contracture of the proximal interphalangeal joint of the 2nd toe


Contracture of the proximal interphalangeal joint of the 3rd toe


Contracture of the proximal interphalangeal joint of the 4th toe


Contractures of the proximal interphalangeal joint of the 5th toe


Contracture of the distal interphalangeal joint of the 2nd toe


Contracture of the distal interphalangeal joint of the 3rd toe


Contracture of the distal interphalangeal joint of the 4th toe


Contractures of the distal interphalangeal joint of the 5th toe


Contracture of the metatarsophalangeal joint of the 2nd toe


Contracture of the metatarsophalangeal joint of the 3rd toe


Contracture of the metatarsophalangeal joint of the 4th toe


Contracture of the metatarsophalangeal joint of the 5th toe


Aplasia/Hypoplasia of the distal phalanx of the 3rd toe


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


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


Aplasia/Hypoplasia of the middle phalanx of the 3rd toe


Aplasia/Hypoplasia of the middle phalanx of the 4th toe


Aplasia/Hypoplasia of the middle phalanx of the 5th toe


Aplasia/hypoplasia of the proximal phalanx of the 3rd toe


Aplasia/hypoplasia of the proximal phalanx of the 4th toe


Aplasia/hypoplasia of the proximal phalanx of the 5th toe


Aplasia of the distal phalanx of the 4th toe


Aplasia of the distal phalanx of the 5th toe


Aplasia of the middle phalanx of the 4th toe


Aplasia of the middle phalanx of the 5th toe


Aplasia of the proximal phalanx of the 4th toe


Aplasia of the proximal phalanx of the 5th toe


Aplasia of the middle phalanges of the toes


Aplasia of the proximal phalanges of the toes


Duplication of the distal phalanx of the 3rd toe


Duplication of the distal phalanx of the 4th toe


Duplication of the distal phalanx of the 5th toe


Duplication of the middle phalanx of the 3rd toe


Duplication of the middle phalanx of the 4th toe


Duplication of the middle phalanx of the 5th toe


Duplication of the proximal phalanx of the 3rd toe


Duplication of the proximal phalanx of the 4th toe


Duplication of the proximal phalanx of the 5th toe


Complete duplication of the distal phalanx of the 3rd toe


Complete duplication of the distal phalanx of the 4th toe


Complete duplication of the distal phalanx of the 5th toe


Complete duplication of the middle phalanx of the 3rd toe


Complete duplication of the middle phalanx of the 4th toe


Complete duplication of the middle phalanx of the 5th toe


Complete duplication of the proximal phalanx of the 3rd toe


Complete duplication of the proximal phalanx of the 4th toe


Complete duplication of the proximal phalanx of the 5th toe


Partial duplication of the distal phalanx of the 3rd toe


Partial duplication of the distal phalanx of the 4th toe


Partial duplication of the distal phalanx of the 5th toe


Partial duplication of the middle phalanx of the 3rd toe


Partial duplication of the middle phalanx of the 4th toe


Partial duplication of the middle phalanx of the 5th toe


Partial duplication of the proximal phalanx of the 3rd toe


Partial duplication of the proximal phalanx of the 4th toe


Partial duplication of the proximal phalanx of the 5th toe


Bullet-shaped middle phalanx of the 3rd toe


Bullet-shaped middle phalanx of the 4th toe


Bullet-shaped middle phalanx of the 5th toe


Bullet-shaped proximal phalanx of the 3rd toe


Bullet-shaped proximal phalanx of the 4th toe


Bullet-shaped proximal phalanx of the 5th toe


Bullet-shaped distal phalanx of the 3rd toe


Bullet-shaped distal phalanx of the 4th toe


Bullet-shaped distal phalanx of the 5th toe


Osteolytic defects of the middle phalanx of the 3rd toe


Osteolytic defects of the middle phalanx of the 4th toe


Osteolytic defects of the middle phalanx of the 5th toe


Osteolytic defects of the proximal phalanx of the 3rd toe


Osteolytic defects of the proximal phalanx of the 4th toe


Osteolytic defects of the proximal phalanx of the 5th toe


Osteolytic defects of the distal phalanx of the 3rd toe


Osteolytic defects of the distal phalanx of the 4th toe


Osteolytic defects of the distal phalanx of the 5th toe


Patchy sclerosis of the middle phalanx of the 3rd toe


Patchy sclerosis of the middle phalanx of the 4th toe


Patchy sclerosis of the middle phalanx of the 5th toe


Patchy sclerosis of the proximal phalanx of the 3rd toe


Patchy sclerosis of the proximal phalanx of the 4th toe


Patchy sclerosis of the proximal phalanx of the 5th toe


Patchy sclerosis of the distal phalanx of the 3rd toe


Patchy sclerosis of the distal phalanx of the 4th toe


Patchy sclerosis of the distal phalanx of the 5th toe


Symphalangism affecting the middle phalanx of the 3rd toe


Symphalangism affecting the middle phalanx of the 4th toe


Symphalangism affecting the middle phalanx of the 5th toe


Symphalangism affecting the proximal phalanx of the 3rd toe


Symphalangism affecting the proximal phalanx of the 4th toe


Symphalangism affecting the proximal phalanx of the 5th toe


Symphalangism affecting the distal phalanx of the 3rd toe


Symphalangism affecting the distal phalanx of the 4th toe


Symphalangism affecting the distal phalanx of the 5th toe


Proximal/middle symphalangism of 3rd toe


Proximal/middle symphalangism of 4th toe


Proximal/middle symphalangism of 5th toe


Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal


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


Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal


Triangular shaped distal phalanx of the 5th toe


Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


Proximal/middle symphalangism of 2nd toe


obsolete Joint contractures involving the joints of the feet


Abnormality of the vitamin B3 metabolism


Abnormal calcium-phosphate regulating hormone level


Abnormal pigmentation of the oral mucosa


Abnormality of the curvature of the cornea


Abnormality of vertebral epiphysis morphology


Benign neoplasm of the central nervous system


Malignant neoplasm of the central nervous system


Dilatation of superior mesenteric artery


Dilatation of Inferior mesenteric artery


Sclerosis of the distal phalanx of the 2nd finger


Sclerosis of the distal phalanx of the 3rd finger


Sclerosis of the distal phalanx of the 4th finger


Sclerosis of the distal phalanx of the 5th finger


Sclerosis of the middle phalanx of the 2nd finger


Sclerosis of the middle phalanx of the 3rd finger


Sclerosis of the middle phalanx of the 4th finger


Sclerosis of the middle phalanx of the 5th finger


Sclerosis of the proximal phalanx of the 2nd finger


Sclerosis of the proximal phalanx of the 3rd finger


Sclerosis of the proximal phalanx of the 4th finger


Sclerosis of the proximal phalanx of the 5th finger


Sclerosis of the distal phalanx of the thumb


Sclerosis of the proximal phalanx of the thumb


Sclerosis of the proximal phalanx of the 2nd toe


Sclerosis of the proximal phalanx of the 3rd toe


Sclerosis of the proximal phalanx of the 4th toe


Sclerosis of the proximal phalanx of the 5th toe


Sclerosis of the middle phalanx of the 2nd toe


Sclerosis of the middle phalanx of the 3rd toe


Sclerosis of the middle phalanx of the 4th toe


Sclerosis of the middle phalanx of the 5th toe


Sclerosis of the distal phalanx of the 2nd toe


Sclerosis of the distal phalanx of the 3rd toe


Sclerosis of the distal phalanx of the 4th toe


Sclerosis of the distal phalanx of the 5th toe


Sclerosis of the proximal phalanx of the hallux


Sclerosis of the distal phalanx of the hallux


Decreased 3-hydroxyacyl-CoA dehydrogenase level


Respiratory insufficiency due to defective ciliary clearance


obsolete Peripheral retinal pigmentation abnormalities


Recurrent upper and lower respiratory tract infections


Chronic hepatitis due to cryptosporidium infection


obsolete Macrocephaly due to hydrocephalus


Mucoid extracellular matrix accumulation


Abnormal liver function tests during pregnancy


Increased serum bile acid concentration during pregnancy


Agenesis of permanent mandibular lateral incisor


Agenesis of primary mandibular lateral incisor


obsolete Abnormality of cartilage morphology


Abnormality of the peripheral nervous system


Abnormality of the somatic nervous system


Abnormal peripheral nervous system ganglion morphology


Abnormal distribution of cell junction proteins in buccal mucosal cells


Decreased level of 1,5 anhydroglucitol in serum


Increased level of 3-hydroxy-3-methylglutaric acid in urine


Elevated circulating gamma-aminobutyric acid concentration


Decreased circulating GABA concentration


Increased level of galactonate in red blood cells


Increased level of galactitol in red blood cells


Increased level of hippuric acid in blood


Increased level of hippuric acid in urine


obsolete Increased level of L-glutamic acid in blood


Increased level of propylene glycol in blood


Increased level of L-pyroglutamic acid in urine


Abnormal circulating biotinidase concentration


Decreased circulating biotinidase concentration


Elevated circulating biotinidase concentration


Eosinophilic infiltration in the stomach mucosa


Eosinophilic infiltration of the esophagus


Eosinophilic microabscess formation in the esophagus


Increased level of methylsuccinic acid in urine


Increased level of myristic acid in serum


Increased level of N-acetylneuraminic acid in urine


Increased level of N-acetylneuraminic acid in fibroblasts


obsolete Increased urine O-phosphoethanolamine level


Abnormal morphology of the chest musculature


Abnormal morphology of the shoulder musculature


Increased circulating troponin I concentration


Increased circulating troponin T concentration


Abnormal circulating glucose-6-phosphate dehydrogenase concentration


Abnormal glucose-6-phosphate dehydrogenase level in blood


Increased glucose-6-phosphate dehydrogenase level in blood


Decreased glucose-6-phosphate dehydrogenase level in blood


Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot


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


Decreased glucose-6-phosphate dehydrogenase level in dried blood spot


Abnormal glucose-6-phosphate dehydrogenase level in leukocytes


Abnormal glucose-6-phosphate dehydrogenase level in red blood cells


Abnormal glucose-6-phosphate dehydrogenase level in tissue


Increased glucose-6-phosphate dehydrogenase level in tissue


Decreased glucose-6-phosphate dehydrogenase level in tissue


Decreased glucose-6-phosphate dehydrogenase level in red blood cells


Increased glucose-6-phosphate dehydrogenase level in red blood cells


Decreased glucose-6-phosphate dehydrogenase level in leukocytes


Increased glucose-6-phosphate dehydrogenase level in leukocytes


Abnormal uridine diphosphate glucose-4-epimerase level


Abnormal uridine diphosphate glucose-4-epimerase level in plasma


Increased uridine diphosphate glucose-4-epimerase level in plasma


Decreased uridine diphosphate glucose-4-epimerase level in plasma


Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells


Increased uridine diphosphate glucose-4-epimerase level in red blood cells


Decreased uridine diphosphate glucose-4-epimerase level in red blood cells