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Gene Attribute
Gene Similarity
Attribute Similarity
UMAP
6832 sets of genes associated with phenotypes in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
| Gene Set | Description |
|---|---|
| Apnea | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| Exanthema | |
| Hepatomegaly | Abnormally increased size of the liver. |
| Pathologic Fistula | |
| Alcohol Consumption | |
| Antisocial Behavior | |
| Cns Metastases | |
| Creatinine Measurement, Serum (Procedure) | |
| Depressed Mood | |
| Glomerular Filtration Rate | measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test |
| Low Density Lipoprotein Cholesterol Measurement | |
| Neoplasm Metastasis | |
| Polyps | |
| Seizures | Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. |
| Serum Total Cholesterol Measurement | |
| Triglycerides Measurement | |
| Tumor Cell Invasion | |
| Uric Acid Measurement (Procedure) | |
| Abnormal Behavior | any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls |
| Alzheimer Disease | |
| Cardiomegaly | Increased size of the heart. |
| Decreased Level Of Gaba In Serum | |
| Drug-Induced Liver Disease | |
| Fever | Elevated body temperature due to failed thermoregulation. |
| Inflammation | |
| Long-Tract Signs | Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. |
| Mental Deterioration | Loss of previously present mental abilities, generally in adults. |
| Neuralgia | |
| Neurofibrillary Degeneration (Morphologic Abnormality) | |
| Thromboembolism | The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. |
| Urinary Incontinence | Loss of the ability to control the urinary bladder leading to involuntary urination. |
| Venous Thromboembolism | Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream. |
| Abnormal Platelet Function | Any anomaly in the function of thrombocytes. |
| Abnormality Of Coagulation | An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. |
| Aplasia/Hypoplasia Of The Abdominal Wall Musculature | Absence or underdevelopment of the abdominal musculature. |
| Bleeding Tendency | disease cluster belonging to disease group hematological |
| Cardiac Arrhythmia | Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. |
| Coarse Hair | Hair shafts are rough in texture. |
| Delayed Bone Age | |
| Downward Slant Of Palpebral Fissure | |
| Enlarged Thorax | |
| Feeding Difficulties In Infancy | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| High Forehead | An abnormally increased height of the forehead. |
| Joint Hyperflexibility | |
| Low Posterior Hairline | Hair on the neck extends more inferiorly than usual. |
| Low-Set, Posteriorly Rotated Ears | Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). |
| Midface Retrusion | Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. |
| Muscle Hypotonia | |
| Muscle Weakness | Reduced strength of muscles. |
| Nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Orbital Separation Excessive | |
| Short Stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| Short Stature, Ctcae | |
| Thick Lower Lip Vermilion | Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). |
| Thickened Helices | Increased thickness of thehelix of the ear. |
| Thickened Nuchal Skin Fold | A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637). |
| Triangular Face | Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. |
| Wide Spaced Nipples | |
| Body Mass Index | An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention) |
| Blood Group Antigen Abnormality | An abnormality of an erythrocyte cell surface molecule. |
| Blood Protein Measurement | |
| Hematocrit Procedure | |
| Hemoglobin Measurement | |
| Mean Corpuscular Volume (Result) | |
| Platelet Component Distribution Width Measurement | |
| Platelet Mean Volume Determination (Procedure) | |
| Polyuria | An increased rate of urine production. |
| Rdw - Red Blood Cell Distribution Width Result | |
| Red Blood Cell Count Measurement | |
| Red Cell Distribution Width Determination | |
| Tumor Progression | disease cluster belonging to disease group cancer |
| Abnormal Pigmentation | |
| Abnormal Visual Evoked Potential | |
| Abnormality Of The Hypothenar Eminence | An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). |
| Adrenal Gland Hypofunction | |
| Adrenocorticotropin Receptor Defect | |
| Anisocoria | Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. |
| Ataxia | |
| Babinski Reflex | |
| Childhood Onset | Onset of disease at the age of between 1 and 5 years. |
| Decreased Circulating Aldosterone Level | A decreased level of aldosterone in the blood. |
| Decreased Circulating Cortisol Level | Abnormally reduced concentration of cortisol in the blood. |
| Generalized Hyperpigmentation | |
| Hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| Hyperreflexia | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| Hypotension | Blood pressure that is abnormally low. |
| Motor Axonal Neuropathy | Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. |
| Myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| Paraparesis, Spastic | |
| Plantar Hyperkeratosis | Hyperkeratosis affecting the sole of the foot. |
| Prolonged Neonatal Jaundice | |
| Respiratory Insufficiency | Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide. |
| Visual Impairment | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| Hyperactive Behavior | |
| Memory Impairment | An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. |
| Acanthosis | |
| Bone Density | The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS. |
| Hypergranulosis | increased thickness of the granular layer of the epidermis |
| Nail Abnormality | |
| Orthokeratosis | thickening of the stratum corneum of the epidermis (hyperkeratosis) with non-nucleated keratinocytes retained in this layer |
| Age At Menarche | The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual |
| Body Height | The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. |
| Pain | An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. |
| Tactile Allodynia | |
| Carcinogenesis | |
| Finding Of Mean Corpuscular Hemoglobin | |
| Intelligence | The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions. |
| Reticulocyte Count (Procedure) | |
| Anteriorly Placed Anus | Anterior malposition of the anus. |
| Macule | A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. |
| Microcephaly | OMIM mapping confirmed by DO. [SN]. |
| Protein C Antigen Measurement | |
| Protein C Measurement | |
| Suntan | An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors. |
| Abnormal Corpus Callosum Morphology | any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres |
| Abnormal Myelination | Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. |
| Absent Reflex | |
| Cerebellar Ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| Chorea | Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. |
| Cns Hypomyelination | Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. |
| Decreased Motor Nerve Conduction Velocity | A type of decreased nerve conduction velocity that affects the motor neuron. |
| Delayed Speech And Language Development | A degree of language development that is significantly below the norm for a child of a specified age. |
| Difficulty Walking | Reduced ability to walk (ambulate). |
| Distal Muscle Weakness | Reduced strength of the musculature of the distal extremities. |
| Distal Sensory Impairment | An abnormal reduction in sensation in the distal portions of the extremities. |
| Eeg With Multifocal Slow Activity | |
| Feeding Difficulties | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Fetal Growth Retardation | slow or limited development during the fetal period (sensu Mus: from E14 through birth) |
| Foot Dorsiflexor Weakness | Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. |
| Gait, Unsteady | |
| Generalized Hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| Hammer Toe | |
| Hyporeflexia | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| Hypsarrhythmia | Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). |
| Impulsive Behavior | disease cluster belonging to disease group psych |
| Limb Hypertonia | |
| Muscle Rigidity | |
| Muscle Spasticity | |
| Poor Head Control | Difficulty to maintain correct position of the head while standing or sitting. |
| Reduced Fetal Movement | |
| Retinal Degeneration | |
| Skeletal Muscle Atrophy | A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. |
| Spasticity, Ctcae | |
| Tremor | An unintentional, oscillating to-and-fro muscle movement. |
| Variable Expressivity | A variable severity of phenotypic features. |
| Acidosis, Lactic | |
| Combined Oxidative Phosphorylation Deficiency | |
| Death In Infancy | Death within the first 24 months of life. |
| Dystonia | |
| Electroencephalogram Abnormal | |
| Generalized Muscle Weakness | Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. |
| Generalized Muscle Weakness, Ctcae | |
| Increased Serum Lactate | Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. |
| Loss Of Speech | |
| Mixed Respiratory And Metabolic Acidosis | |
| Nerve Degeneration | |
| Polyhydramnios | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
| Progressive Leukoencephalopathy | Leukoencephalopathy that gets more severe with time. |
| Dehydration | |
| Hyperlysinuria | An increased concentration of lysine in the blood. |
| Reduced Concentration Span | |
| Blast Cell Proliferation | |
| Dryness Of Eye | |
| Lean Body Mass | |
| Systolic Pressure | |
| Abnormal Deep Tendon Reflex | |
| Absence Seizures | Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures. |
| Atonic Absence Seizures | |
| Bulbocavernosus Reflex, Decreased | |
| Bulbocavernousus Reflex Absent | |
| Convulsions | |
| Death In Childhood | Death in during childhood, defined here as between the ages of 2 and 10 years. |
| Developmental Delay (Disorder) | |
| Epileptic Seizures | |
| Flaccid Muscle Tone | |
| Floppy Muscles | |
| Generalized Absence Seizures | |
| Gustatory Seizure | |
| High Pitched Cry | |
| Hoffman'S Reflex | |
| Hyperalgesia | increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) |
| Hyperkinesia | |
| Hypersomnolence | disease cluster belonging to disease group other |
| Ischemia | A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION. |
| Lethargy | A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. |
| Motor Retardation | |
| Muscle Tone Atonic | |
| Myoclonic Seizures | |
| Non-Epileptic Convulsion | |
| Nonepileptic Seizures | |
| Olfactory Seizure | |
| Palmo-Mental Reflex | |
| Posterior Fossa Cyst | A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. |
| Reflex, Abnormal | |
| Reflex, Acoustic, Abnormal | |
| Reflex, Anal, Absent | |
| Reflex, Anal, Decreased | |
| Reflex, Ankle, Abnormal | |
| Reflex, Ankle, Absent | |
| Reflex, Ankle, Decreased | |
| Reflex, Biceps, Abnormal | |
| Reflex, Biceps, Absent | |
| Reflex, Biceps, Decreased | |
| Reflex, Corneal, Absent | |
| Reflex, Corneal, Decreased | |
| Reflex, Deep Tendon, Absent | |
| Reflex, Gag, Absent | |
| Reflex, Gag, Decreased | |
| Reflex, Knee, Abnormal | |
| Reflex, Knee, Decreased | |
| Reflex, Moro, Asymmetric | |
| Reflex, Pendular | |
| Reflex, Triceps, Abnormal | |
| Reflex, Triceps, Absent | |
| Reflex, Triceps, Decreased | |
| Seizures, Auditory | |
| Seizures, Focal | |
| Seizures, Intractable | |
| Seizures, Sensory | |
| Seizures, Somatosensory | |
| Serum Albumin Measurement | |
| Severe Global Developmental Delay | A severe delay in the achievement of motor or mental milestones in the domains of development of a child. |
| Severe Muscular Hypotonia | A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. |
| Tall Stature | A height above that which is expected according to age and gender norms. |
| Tinnitus | Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. |
| Tonic Seizures | increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity |
| Unilateral Hypotonia | |
| Vertiginous Seizure | |
| Abdominal Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. |
| Abnormality Of The Liver | An abnormality of the liver. |
| Accelerated Atherosclerosis | |
| Apolipoprotein A-I Deficiency | |
| Atherogenesis | |
| Atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| Blurred Vision | Lack of sharpness of vision resulting in the inability to see fine detail. |
| Blurred Vision, Ctcae | |
| Calcification Of Coronary Artery | |
| Chronic Noninfectious Lymphadenopathy | A chronic form of lymphadenopathy that is not related to infection. |
| Coinfection | |
| Corneal Opacity | A reduction of corneal clarity. |
| Corneal Stromal Opacities | |
| Decreased Hdl Cholesterol Concentration | |
| Dry Skin | Skin characterized by the lack of natural or normal moisture. |
| Dry Skin, Ctcae | |
| Electromyogram Abnormal | |
| Endothelial Dysfunction | |
| Facial Diplegia | Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). |
| Gestational Diabetes | |
| Hepatosplenomegaly | Simultaneous enlargement of the liver and spleen. |
| High Density Lipoprotein Measurement | |
| Hypertriglyceridemia | A condition of elevated levels of TRIGLYCERIDES in the blood. |
| Impaired Glucose Tolerance | |
| Impaired Pain Sensation | Reduced ability to perceive painful stimuli. |
| Impaired Thermal Sensitivity | |
| Leukocytosis | An abnormal increase in the number of leukocytes in the blood. |
| Lymphadenopathy | Enlargment (swelling) of a lymph node. |
| Orange Discoloured Tonsils | |
| Peripheral Demyelination | A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. |
| Physical Activity Measurement | |
| Premature Coronary Artery Atherosclerosis | |
| Progressive Peripheral Neuropathy | |
| Serum Hdl Cholesterol Measurement | |
| Splenomegaly | Abnormal increased size of the spleen. |
| Tangier Disease, Variant | |
| Thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| Vascular Inflammations | |
| Waist-Hip Ratio | The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered at risk for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004) |
| Abnormality Of The Dentition | |
| Abnormality Of The Helix | An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. |
| Aplasia/Hypoplasia Of The Eyebrow | Absence or underdevelopment of the eyebrow. |
| Depressed Nasal Ridge | Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. |
| Eclabion | A turning outward of the lip or lips, that is, eversion of the lips. |
| Eversion Of Lower Lip | |
| Hearing Impairment | A decreased magnitude of the sensory perception of sound. |
| Hyperkeratosis | Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. |
| Hypoplasia | |
| Hypothermia, Natural | |
| Lack Of Skin Elasticity | |
| Limitation Of Joint Mobility | A reduction in the freedom of movement of one or more joints. |
| Premature Birth | The birth of a baby of less than 37 weeks of gestational age. |
| Pruritus | Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. |
| Recurrent Respiratory Infections | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| Scaly Skin | skin covered with shedding scales |
| Self-Injurious Behavior | Aggression towards oneself. |
| Short Finger | Abnormally short finger associated with developmental hypoplasia. |
| Sparse Hair | Reduced density of hairs. |
| Sudden Cardiac Death | The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). |
| Disease Exacerbation | |
| Birth Weight | The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. |
| Coughing | |
| Dyspnea On Exertion | |
| Ground-Glass Opacification On Pulmonary Hrct | |
| Neonatal Respiratory Distress | Respiratory difficulty as newborn. |
| Pathological Accumulation Of Air In Tissues | |
| Pulmonary Hypertension | Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.|A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA. |
| Pulmonary Valve Insufficiency | A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. |
| Rales | |
| Respiratory Distress | |
| Reticular Pattern On Pulmonary Hrct | |
| Tachypnea | Very rapid breathing. |
| Very Low Birth Weight | |
| Abnormal Retinal Morphology | |
| Abnormal Vision | inability or decreased ability to see |
| Abnormality Of Retinal Pigmentation | |
| Anteverted Nostril | |
| Aplasia Of The Bone | |
| Aspartate Aminotransferase Measurement | |
| Attenuation Of Retinal Blood Vessels | |
| Atypical Scarring Of Skin | Atypically scarred skin . |
| Blindness | |
| Bone Spicule Pigmentation Of The Retina | |
| Cleft Lip | |
| Color Vision Defect | |
| Electroretinogram Abnormal | |
| Extensively Drug-Resistant Tuberculosis | |
| Foveal Atrophy | |
| Macular Degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| Macular Dystrophy | Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. |
| Nasal Bridge Wide | |
| Ophthalmoplegia | |
| Pallor | Abnormally pale skin. |
| Paroxysmal Involuntary Eye Movements | Sudden-onset episode of abnormal, involuntary eye movements. |
| Photophobia | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. |
| Progressive Night Blindness | |
| Reduced Visual Acuity | |
| Retinal Flecking | |
| Retinal Pigment Epithelial Atrophy | |
| Retinal Pigment Epithelial Mottling | |
| Retinal Thinning | |
| Scotoma | |
| Serum Ldl Cholesterol Measurement | |
| Stargardt'S Disease | |
| Unspecified Visual Loss | |
| Visual Field Constriction | |
| X- Linked Recessive | |
| Yellow/White Lesions Of The Macula | |
| Coarse Facial Features | Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. |
| Generalized Hirsutism | Abnormally increased hair growth over much of the entire body. |
| Gingival Overgrowth | |
| Hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| Late Tooth Eruption | |
| Suicide Attempt | |
| Thick Eyebrow | Increased density/number and/or increased diameter of eyebrow hairs. |
| Smoking | |
| Smoking Behaviors | |
| Tonometry | disease cluster belonging to disease group other |
| Abnormal Social Behavior | An abnormality of actions or reactions of a person taking place during interactions with others. |
| Agitation | |
| Blood Basophil Count (Lab Test) | |
| Confusion | Lack of clarity and coherence of thought, perception, understanding, or action. |
| Corpuscular Hemoglobin Concentration Mean | |
| Deposits Immunoreactive To Beta-Amyloid Protein | |
| Eosinophil Count Procedure | |
| Finger Agnosia | An agnosia that is a loss of the ability to distinguish the fingers on the hand. |
| Forgetful | |
| Hippocampal Atrophy | Atrophy of the hippocampus as a result of some external stress or disease |
| Muscle Hypertonia | |
| Neutrophil Count (Procedure) | |
| Physiologic Disinhibition | |
| C-Reactive Protein Measurement | |
| Ache | acetylcholinesterase (Yt blood group)|Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008] |
| Acute Onset Pain | |
| Addictive Behavior | |
| Adenitis | |
| Akathisia | |
| Angina | |
| Arthralgia | Joint pain. |
| Asthenia | |
| Aura | |
| Avascular Necrosis | |
| Bone Necrosis | |
| Cancer Pain | |
| Carcinoid Tumor | A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690) |
| Carcinomatosis | |
| Childhood Solid Neoplasm | |
| Chorioamnionitis | A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. |
| Chromosomal Translocation | |
| Colchicine Resistance | |
| Columnar Cell Change Of The Breast | |
| Coumarin Resistance | |
| Depression | A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. |
| Diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| Difficulty Sleeping | |
| Dizziness | |
| Drug Usage | |
| Early Pregnancy | |
| Endotoxemia | |
| Fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| Fatty Liver Disease | A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. |
| Hyperammonemia | An increased concentration of ammonia in the blood. |
| Hyponatremia | An abnormally decreased sodium concentration in the blood. |
| Increased Drug Resistance | |
| Intestinal Metaplasia | |
| Lipidemias | |
| Liver Disease, Alcoholic, Susceptibility To, 1 | |
| Male Infertility | |
| Malignant Transformation | |
| Nausea | A sensation of unease in the stomach together with an urge to vomit. |
| Nausea And Vomiting | |
| Neoplasm, Residual | |
| Neoplasms, Experimental | |
| Peripheral Neuropathic Pain | |
| Polydipsia | Excessive thirst manifested by excessive fluid intake. |
| Postoperative Nausea | |
| Postoperative Nausea And Vomiting | |
| Pregnancy In Diabetics | |
| Primary Lesion | |
| Progressive Neoplastic Disease | |
| Radiating Pain | |
| Refractory Cancer | |
| Simple Partial Status Epilepticus | |
| Solid Neoplasm | |
| Somnolence | |
| Suffering, Physical | |
| Tumor Initiation | |
| Tumor Necrosis | |
| Tumor Vasculature | |
| Vertigo | An abnormal sensation of spinning while the body is actually stationary. |
| Vomiting | Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. |
| Withdrawal Symptoms | |
| Alanine Aminotransferase Measurement | |
| Alkaline Phosphatase Measurement | |
| Alkaline Phosphatase Raised | |
| Fasting Blood Glucose Measurement | An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating. |
| Fasting Blood Sugar Result | |
| Gastrointestinal Symptom | |
| Glucose Tolerance Test | A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg). |
| Icterus | |
| Intermittent Jaundice | Jaundice that is sometimes present, sometimes not. |
| Intestinal Malabsorption Of Fat | |
| Liver Neoplasms, Experimental | |
| Serum Alanine Aminotransferase Measurement | |
| Serum Alkaline Phosphatase Raised | |
| Serum Gamma-Glutamyl Transferase Measurement | Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse. |
| Severe Diarrhea | |
| Spots On Skin | |
| Absence Of Sensation | |
| Biliary Calculi | |
| Elevated Hepatic Transaminase | |
| Increased Serum Bile Acid Concentration During Pregnancy | |
| Liver Dysfunction | |
| Malabsorption | Impaired ability to absorb one or more nutrients from the intestine. |
| Malabsorption, Ctcae | |
| Portal Fibrosis | Fibroblast proliferation and fiber expansion from the portal areas to the lobule. |
| Regurgitation | |
| Stage, Chronic Lymphocytic Leukemia | |
| Electrocardiogram: P-R Interval | |
| Melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| Carotid Artery Occlusion | |
| Cerebellar Signs | |
| Coloboma Of Eyelid | |
| Dream Disorder | |
| Dysphonia | An impairment in the ability to produce voice sounds. |
| Episodic Hemolytic Anemia | A form of hemolytic anemia that occurs in repeated episodes. |
| Freckles | Disorders of increased melanin pigmentation that develop without preceding inflammatory disease. |
| Hematuria | The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). |
| Hoarseness | |
| Hyperkalemia | An abnormally increased potassium concentration in the blood. |
| Hypermelanotic Macule | A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. |
| Immune Suppression | |
| Impaired Motor Coordination | |
| May-Hegglin Anomaly | |
| Mcv - Raised | |
| Microphthalmia | |
| Mobility Limitation | |
| Photosensitivity Of Skin | |
| Recurrent Tumor | |
| Reticulocytosis | An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. |
| Sleeplessness | |
| Spasm | |
| Spotty Hypopigmentation | |
| Stomatocytosis Result | |
| Total Body Pain Syndrome | |
| Tremor Of Hands | |
| Tumor Angiogenesis | |
| Vascular Calcification | Abnormal calcification of the vasculature. |
| Abnormal Coordination | |
| Abnormality Of Metabolism/Homeostasis | |
| Action Tremor | A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. |
| Cerebellar Dysmetria | |
| Clonus | A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. |
| Dysdiadochokinesis | A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee. |
| Nonprogressive Cerebellar Ataxia | |
| Carcinoid Tumor No Icd-O Subtype | |
| Nodule | |
| Respiratory Function Tests | |
| Mathematical Ability | |
| Tubulointerstitial Fibrosis | Fibrosis that involves the tubules and interstitial tissue of the kidney. |
| Biliary Tract Abnormality | |
| Female Pattern Alopecia (Disorder) | |
| Urine Discoloration | |
| Lymphocyte Count Measurement | |
| Drug Habituation | |
| Longevity | The length of time of an organism's life. |
| Platelet Count Measurement | |
| Prescription Drug Abuse | |
| Response To Irinotecan | |
| Depth Of Anterior Chamber Of Eye | |
| White Blood Cell Count Procedure | |
| Abnormal Endocardium Morphology | any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart |
| Abnormal Platelets | |
| Abnormality Of The Eye | |
| Abnormality Of The Sternum | An anomaly of the sternum, also known as the breastbone. |
| Abnormally Lax Or Hyperextensible Skin | |
| Arterial Calcification | Pathological deposition of calcium salts in one or more arteries. |
| Blue Sclera | |
| Cerebral Calcification | The presence of calcium deposition within brain structures. |
| Cerebral Hemorrhage | Hemorrhage into the parenchyma of the brain. |
| Choroidal Neovascularization | new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera |
| Cutaneous Plaque | |
| Electrocardiogram Abnormal | |
| Excessive Wrinkled Skin | |
| Gastrointestinal Hemorrhage | Hemorrhage affecting the gastrointestinal tract. |
| High, Narrow Palate | The presence of a high and narrow palate. |
| Hyperextensible Skin | A condition in which the skin can be stretched beyond normal, and then returns to its initial position. |
| Increased Tendency To Bruise | |
| Intermittent Claudication | |
| Intraoperative Floppy Iris Syndrome | |
| Kyphosis Deformity Of Spine | |
| Medial Calcification Of Large Arteries | Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. |
| Medial Calcification Of Medium-Sized Arteries | |
| Metamorphopsia | |
| Multiple Tumors | |
| Papule | A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. |
| Peau D'Orange Retinal Changes | |
| Peau D'Orange Surface Of Breast | |
| Postural Instability | |
| Renal Colic | |
| Retinal Hemorrhage | Hemorrhage occurring within the retina. |
| Retinopathy, Ctcae | |
| Stricture Of Artery | |
| Subcutaneous Nodule | Slightly elevated lesions on or in the skin with a diameter of over 5 mm. |
| Telangiectasia | |
| Yellow Papule | |
| Abnormal C-Peptide Level | |
| Abnormal Oral Glucose Tolerance | A type of Abnormal glucose tolerance observed following administration of an oral bolus of glucose. |
| Acid Reflux | |
| Beta-Cell Dysfunction | |
| Bilateral Ptosis | |
| Brain Edema | |
| Broad Forehead | Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. |
| Cardiac Shunt | Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. |
| Cardiopulmonary Arrest | |
| Comatose | |
| Contracture | Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. |
| Decreased Waist To Hip Ratio | |
| Downturned Corners Of Mouth | A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. |
| Drowsiness | Excessive daytime sleepiness. |
| Elevated Hemoglobin A1C | |
| Fasting Hypoglycemia | |
| Glycosuria | An increased concentration of glucose in the urine. |
| Growth Delay | A deficiency or slowing down of growth pre- and postnatally. |
| Hyperhidrosis Disorder | |
| Hypoketotic Hypoglycemia | A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. |
| Hypovolemia | An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. |
| Insulin Resistance | diminished effectiveness of insulin in lowering plasma glucose levels |
| Irritability, Ctcae | |
| Irritable Mood | |
| Irritation - Emotion | |
| Islets Of Langerhans Hyperplasia | |
| Large Fleshy Ears | |
| Large For Gestational Age | The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. |
| Large Head (Disorder) | |
| Limb Joint Contracture | A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. |
| Long Philtrum | Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. |
| Mechanical Allodynia | |
| Microalbuminuria | |
| Mild Global Developmental Delay | A mild delay in the achievement of motor or mental milestones in the domains of development of a child. |
| Motor Delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| Muscular Hypotonia Of The Trunk | Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. |
| Necrosis | |
| Neonatal Insulin-Dependent Diabetes Mellitus | |
| Overweight | |
| Pointed Chin | A marked tapering of the lower face to the chin. |
| Progressive Neurologic Deterioration | |
| Prominent Metopic Ridge | Vertical bony ridge positioned in the midline of the forehead. |
| Radial Deviation Of Finger | Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. |
| Reduced Pancreatic Beta Cells | Reduced number of beta cells in the pancreatic islets of Langerhans. |
| Renal Cyst | |
| Short Nose | Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. |
| Small For Gestational Age (Disorder) | |
| Small For Gestational Age Fetus | |
| Steatorrhea | |
| Tachycardia | A rapid heartrate that exceeds the range of the normal resting heartrate for age. |
| Weight Decreased | |
| Abnormal Heart Valve Morphology | any structural anomaly of the membranous folds of the heart that prevent reflux of fluid |
| Advanced Bone Age | |
| Av Block First Degree By Ecg Finding | |
| Broad First Metatarsal | Increased side-to-side width of the first metatarsal bone. |
| Broad Hallux | Visible increase in width of the hallux without an increase in the dorso-ventral dimension. |
| Broad Ribs | Increased width of ribs. |
| Bulbous Nose | Increased volume and globular shape of the anteroinferior aspect of the nose. |
| Coxa Valga | Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). |
| Craniofacial Hyperostosis | Excessive growth of the craniofacial bones. |
| Creatine Phosphokinase Serum Increased | |
| Cuboid-Shaped Vertebral Bodies | |
| Curly Eyelashes | Abnormally curly or curved eyelashes. |
| Deep Plantar Creases | The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. |
| Depressed Nasal Bridge | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| Duration Of Sleep | |
| Edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Erlenmeyer Flask Deformity Of The Femurs | Flaring of distal femur. |
| Fatigability | |
| Highly Arched Eyebrow | Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. |
| Large Hand | |
| Large Sella Turcica | An abnormal enlargement of the sella turcica. |
| Long Eyelashes | Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). |
| Long Nose | Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. |
| Low Anterior Hairline | Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. |
| Melanocortin 4 Receptor Deficiency | |
| Metaphyseal Widening | Abnormal widening of the metaphyseal regions of long bones. |
| Narrow Thorax | |
| Neutrophil Abnormality | |
| Oral Synechia | |
| Overgrowth | Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. |
| Ovoid Vertebral Bodies | When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. |
| Platyspondyly | A flattened vertebral body shape with reduced distance between the vertebral endplates. |
| Poor School Performance | |
| Prominent Forehead | Forward prominence of the entire forehead, due to protrusion of the frontal bone. |
| Prominent Supraorbital Ridges | Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. |
| Short Distal Phalanx | |
| Short Hallux | Underdevelopment (hypoplasia) of the big toe. |
| Short Neck | Diminished length of the neck. |
| Shortened Qt Interval | Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). |
| Sloping Forehead | Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. |
| St Segment Elevation (Finding) | |
| Syncope | Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. |
| Tapering Fingers (Finding) | |
| Thick Nasal Alae | |
| Thick Skin | greater thickness of the outer protective layer of the body |
| Thick Upper Lip Vermilion | Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). |
| Thick Vermilion Border | Increased width of the skin of vermilion border region of upper lip (FMA:312645). |
| Widened Posterior Fossa | |
| Ankle Clonus | Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. |
| Brisk Reflexes | |
| Episodic Vomiting | Paroxysmal, recurrent episodes of vomiting. |
| Growth Failure | |
| Hyperargininemia | An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. |
| Impaired Distal Proprioception | A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. |
| Impaired Vibration Sensation At Ankles | A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. |
| Impaired Vibration Sensation In The Lower Limbs | A decrease in the ability to perceive vibration in the legs. |
| Intrauterine Retardation | |
| Leukoaraiosis | |
| Low Back Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. |
| Lower Limb Hyperreflexia | |
| Paraparesis | Weakness or partial paralysis in the lower limbs. |
| Progressive Spastic Paraplegia | |
| Progressive Spasticity | Spasticity that increases in degree with time. |
| Recurrent Fevers | |
| Romberg'S Sign Positive | |
| Serum Lipids High (Finding) | |
| Slurred Speech | Abnormal coordination of muscles involved in speech. |
| Spastic Gait | |
| Urinary Bladder Sphincter Dysfunction | Abnormal function of a sphincter of the urinary bladder. |
| Very Long Chain Fatty Acid Accumulation | |
| Abnormal Posture | atypical intentionally or habitually assumed position of the limbs or carriage of the body |
| Decreased Adenosylcobalamin | Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. |
| Hernia | |
| Hyperhomocystinemia | An increased concentration of homocystine in the blood. |
| Methylmalonic Acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Allergic Reaction | |
| Bone Mineral Density Test | |
| Decreased Concentration | |
| Disseminated Malignant Neoplasm | |
| Weight Gain | |
| Mammary Neoplasms | |
| Response To Statin | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a statin stimulus, a compound that inhibits HMG-CoA reductases. |
| Abnormal Eye Physiology | A functional anomaly of the eye. |
| Abnormality Of Nervous System Physiology | A functional anomaly of the nervous system. |
| Calcification Of The Aorta | Calcification, that is, pathological deposition of calcium salts in the aorta. |
| Dyslipoproteinemias | |
| Dyspnea | Difficult or labored breathing. |
| Giant Platelet (Morphologic Abnormality) | |
| Giant Platelet Count (Procedure) | |
| Heart Murmur | |
| Impaired Platelet Aggregation | An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. |
| Iron Level Result | |
| Iron Measurement | |
| Low Density Lipoprotein Increased | |
| Mitral Valve Insufficiency | |
| Myocardial Steatosis | |
| Precocious Atherosclerosis | |
| Ventricular Dysfunction | |
| Common Bile Duct Calculi | |
| Age At Menopause | |
| Decreased Nerve Conduction Velocity | A reduction in the speed at which electrical signals propagate along the axon of a neuron. |
| Decreased Tendon Reflex | |
| Distal Muscle Atrophy Due To Neurologic Disease | |
| Forced Expiratory Volume Function | |
| Intention Tremor | A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). |
| Normal Serum Phytanic And Pristanic Acid | |
| Peak Expiratory Flow (Procedure) | |
| Progressive Hearing Impairment | A progressive form of hearing impairment. |
| Slow Progression | |
| Acquired Immunodeficiency Syndrome | A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. |
| Aids (Disease) | |
| Anaphylaxis | |
| C4 Complement Assay (Procedure) | |
| Hiv-1, Resistance To | |
| Cytokine Measurement | |
| Diastolic Blood Pressure | |
| Phospholipid Measurement | |
| Abnormal Granulocyte Morphology | any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils |
| Central Nervous System Degeneration | |
| Emg: Myopathic Abnormalities | The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. |
| Increased Csf Protein | Increased concentration of protein in the cerebrospinal fluid. |
| Increased Intramyocellular Lipid Droplets | An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images. |
| Progressive Proximal Muscle Weakness | Lack of strength of the proximal muscles that becomes progressively more severe. |
| Shoulder Girdle Weakness | |
| Small Earlobe | Reduced volume of the earlobe. |
| Colonic Polyps | |
| Pseudocholinesterase Measurement | |
| Angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| Abnormal Basophil Morphology | any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation |
| Abnormality Of Skeletal Morphology | An abnormality of the form, structure, or size of the skeletal system. |
| Anterior Chamber Anomalies | |
| Broad Eyebrow | Regional increase in the width (height) of the eyebrow. |
| Constipation | |
| Decrease In Appetite | |
| Dimple Chin | |
| Failure To Gain Weight | |
| Flatfoot | |
| Indolence | |
| Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib | |
| Narrow Nose | Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. |
| Other Ureteric Obstruction | |
| Pneumothorax | |
| Reduced Leukocyte Alkaline Phosphatase | |
| Short Lower Third Of Face | |
| Soft Skin | Subjective impression of increased softness upon palpitation of the skin. |
| Somatic Mutation | |
| Sunken Eyes | |
| Thin Lips | |
| Thin Skin | Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. |
| Tooth Crowding | |
| Unilateral Ptosis | |
| Upward Slant Of Palpebral Fissure | |
| Vital Capacity | The volume of air that is exhaled by a maximal expiration following a maximal inspiration. |
| Activated Partial Thromboplastin Time Measurement | |
| Autoantibody Measurement | |
| Blood Urea Nitrogen Measurement | |
| Coagulation Factor Measurement | |
| Creatine Kinase Measurement | |
| E-Selectin Measurement | An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker. |
| Elevated Blood Glucose Level | |
| Factor Vii Measurement | |
| Factor Viii Measurement | |
| Fibroblast Growth Factor 23 Measurement | |
| Finding Of Liver Enzyme Levels | |
| Glucose Measurement | |
| Glycine Measurement | |
| Goiter | Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC). |
| Hemolytic Reaction | |
| Homocysteine Measurement | A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment. |
| Hypomagnesemia | An abnormally decreased magnesium concentration in the blood. |
| Hysteria | |
| Measurement Of Liver Enzyme | |
| Monocyte Count Procedure | |
| Monocyte Count Result | |
| Neonatal Jaundice | A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. |
| Polysomnography | |
| Postoperative Cognitive Dysfunction | |
| Postthrombotic Syndrome | |
| Precancerous Lesions | |
| Prothrombin Gene Mutation | |
| Soluble Interleukin 6 Receptor Measurement | |
| Thyroid Stimulating Hormone Measurement | |
| Venous Thrombosis | Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. |
| Von Willebrand Disease | |
| Wheezing | |
| Viral Load Result | |
| Cachexia | Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. |
| Chronic Pain | Persistent pain, usually defined as pain that has laster longer than 3 to 6 months. |
| Healthcare Associated Pneumonia | |
| Heart Decompensation | |
| Hemoptysis | Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. |
| Inflammatory Pain | |
| Moderate Pain | |
| Dental Plaque | A soft, thin film of food debris, mucin, and dead epithelial cells deposited on the teeth, providing the medium for the growth of various bacteria. The main inorganic components are calcium and phosphorus, with small amounts of magnesium, potassium, and sodium; the organic matrix consists of polysaccharides, proteins, carbohydrates, lipids, and other components. Plaque plays an important etiologic role in the development of dental caries and periodontal and gingival diseases and provides the base for the development of materia alba; calcified plaque forms dental calculus. |
| Insulin Sensitivity | disease cluster belonging to disease group metabolic |
| Fibrinogen Assay | |
| Chemokine (C-C Motif) Ligand 21 Measurement | |
| 2-Methyl-3-Hydroxybutyric Aciduria | |
| Anal Skin Tag | |
| Blood In Stool | |
| Carnitine Deficiency | |
| Dicarboxylic Aciduria | An increased concentration of dicarboxylic acid in the urine. |
| Elevated Plasma Acylcarnitine Levels | |
| Intestinal Fibrosis | |
| Ketotic Hypoglycemia | |
| Skin Manifestations | |
| Cerebellar Hemorrhage | Hemorrhage into the parenchyma of the cerebellum. |
| Cerebral Edema | |
| Decreased Activity Of Mitochondrial Complex I | A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. |
| Elevated Creatine Kinase After Exercise | |
| Impaired Exercise Tolerance | |
| Increased Lactate Dehydrogenase Activity | |
| Microvesicular Hepatic Steatosis | A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. |
| Myalgia | A tendency to experience muscle pain. |
| Nonketotic Hypoglycemia | |
| Paresis | partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply |
| Prothrombin Time Increased | |
| Acylcarnitines Measurement | |
| Atrial Flutter | A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. |
| Decreased Activity Of 3-Hydroxyacyl-Coa Dehydrogenase | |
| Exercise-Induced Myoglobinuria | Presence of myoglobin in the urine following exercise. |
| Exercise-Induced Rhabdomyolysis | Rhabdomyolysis induced by exercise. |
| Hepatocellular Necrosis | |
| Muscular Stiffness | |
| Prolonged Qt Interval | increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| Abnormal Lactate Dehydrogenase Activity | |
| Decreased Liver Function | Reduced ability of the liver to perform its functions. |
| Decreased Plasma Total Carnitine | A decreased concentration of total carnitine in the blood. |
| Elevated Urinary 3-Hydroxybutyric Acid | |
| Exercise-Induced Myalgia | The occurrence of an unusually high amount of muscle pain following exercise. |
| Fatigable Weakness Of Neck Muscles | |
| Lactic Acidemia | |
| Medium Chain Dicarboxylic Aciduria | |
| Metabolic Acidosis | A lactic acidosis that has_material_basis_in high levels of acid. |
| Proximal Muscle Weakness | A lack of strength of the proximal muscles. |
| Reduced Tendon Reflexes | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. |
| Rhabdomyolysis | Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. |
| Unconscious State | |
| Cardiac Symptom | |
| Episodic Metabolic Acidosis | Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. |
| Ethylmalonic Aciduria | An increased concentration of ethylmalonic acid in the urine. |
| Neonatal Onset | Onset of signs or symptoms of disease within the first 28 days of life. |
| Abnormality Of Circulating Enzyme Level | |
| Anoxemia | |
| Anoxia | absence or almost complete absence of oxygen from inspired gases, in blood or tissues |
| Enlarged Cisterna Magna | Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. |
| Episodic Tachypnea | Episodes of very rapid breathing. |
| Erythrocyte Mean Corpuscular Hemoglobin Test | |
| Heat Stress Disorders | |
| Hypocalcemia | An abnormally decreased calcium concentration in the blood. |
| Hypoxemia | An abnormally low level of blood oxygen. |
| Hypoxia | reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia |
| Increased Circulating Free Fatty Acid Level | higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues |
| Infantile Muscular Hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. |
| Abnormal Breathing | |
| Abnormality Of Epiphysis Morphology | An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. |
| Aortic Stiffness | disease cluster belonging to disease group cardiovascular |
| Ascending Aortic Dissection | A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. |
| Barrel Chest | |
| Body Fat Distribution | Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks. |
| Broad Thumbs | |
| Developmental Stagnation | A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. |
| Disproportionate Short Stature | A kind of short stature in which different regions of the body are shortened to differing extents. |
| Exostoses | An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. |
| Flat Capital Femoral Epiphysis | An abnormal flattening of the proximal epiphysis of the femur. |
| Genu Varum | A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. |
| Growth Abnormality | |
| Heartburn | |
| Height | |
| Infant Length | |
| Irregular Epiphyses | An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. |
| Joint Laxity | Lack of stability of a joint. |
| Proportionate Short Stature | A kind of short stature in which different regions of the body are shortened to a comparable extent. |
| Short Thorax | Reduced inferior to superior extent of the thorax. |
| Waddling Gait | |
| Abnormal Mental State | |
| Abnormal Metabolic Brain Imaging By Mrs | |
| Apathy | Lack of emotion or emotional expression; a disorder of motivation that persists over time. |
| Body Odor | |
| Body Odor, Ctcae | |
| Episodic Ketoacidosis | Intermittent episodes of ketoacidosis. |
| Excessive Daytime Somnolence | |
| Hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. |
| Ketoacidosis | Acidosis resulting from accumulation of ketone bodies. |
| Mammary Tumorigenesis | |
| Increased Serum Pyruvate | An increased concentration of pyruvate in the blood. |
| Isolated Cases | |
| Lipoprotein (A) Measurement | |
| Mental Retardation | |
| Abscess | |
| Chest Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. |
| Continuous Leakage Of Urine | |
| Irreducible Ventral Hernia | |
| Paraesophageal Hernia | |
| Postoperative Delirium | |
| Umbilical Hernia | A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. |
| Anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| Bone Marrow Hypocellularity | A reduced number of hematopoietic cells present in the bone marrow. |
| Cerebral Ventriculomegaly | |
| Dilated Ventricles (Finding) | |
| Dyskeratosis Congenita | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
| Extrapyramidal Sign | |
| Maturation Defect | |
| Premature Canities | |
| Sparse Scalp Hair | Decreased number of head hairs per unit area. |
| Stage, Colon Cancer | |
| White Blood Cell Abnormality | |
| Adrenal Gland Hyperfunction | |
| Affective Symptoms | |
| Albuminuria | The presence of albumin in the urine, an indicator of KIDNEY DISEASES. |
| Alexithymia | An agnosia that is a deficiency in understanding, processing, or describing emotions. |
| Angina Symptom | |
| Angiotensin I-Converting Enzyme, Benign Serum Increase | |
| Anuria | |
| Arteriovenous Fistula | |
| Aspirin Intolerance | |
| Back Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. |
| Cardiac Event | |
| Cardiovascular Morbidity | |
| Child Abuse Behavior | |
| Chronic Cough | |
| Cognitive Changes | |
| Completed Suicide | |
| Delinquent Behavior | |
| Diaphragmatic Hernia | |
| Dry Cough | |
| Endomyocardial Fibrosis | |
| Enzyme Inhibition Disorder | |
| Experimental Organism Basal Cell Carcinoma | |
| Familial Atrial Fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. |
| Fibrosis | |
| H/O: Depression | |
| Headache | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| Hypernatremia | An abnormally increased sodium concentration in the blood. |
| Hyperoxia | elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases |
| Inappropriate Adh Syndrome | |
| Leptomeningeal Enhancement | |
| Lip Swelling | |
| Liver Mass | |
| Maladaptive Behavior Associated With Physical Illness | |
| Male Sterility | |
| Nocturnal Polyuria | |
| Old Myocardial Infarction | |
| Oligohydramnios | A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. |
| Overweight Or Obesity | |
| Persistent Atrial Fibrillation | |
| Persistent Dry Cough | |
| Post Mi | |
| Pre-Eclampsia | A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. |
| Pregnancy Associated Hypertension | |
| Premature Ventricular Contractions | |
| Proteinuria | |
| Psychiatric Symptom | |
| Pulmonary Edema | |
| Sarcopenia | |
| Sleep Disturbances | |
| Spontaneous Abortion | A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. |
| Subfertility, Male | |
| Sudden Death | Rapid and unexpected death. |
| Symptoms Of Stress | |
| Ureteral Obstruction | |
| Ventilatory Threshold | |
| Ventricular Remodeling | disease cluster belonging to disease group cardiovascular |
| Welts | |
| Widely Patent Fontanelles And Sutures | An abnormally increased width of the cranial fontanelles and sutures. |
| Abortion, Tubal | |
| Acute Exacerbation Of Chronic Obstructive Airways Disease | |
| Early Pregnancy Loss | |
| Meconium Aspiration Syndrome | |
| Psychological Symptom | |
| Temporal Pain | |
| Thrombosis | formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements |
| Large Nose | |
| Smooth Philtrum | Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. |
| Anxiety | Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus. |
| Body Ache | |
| Coarse Tremor | |
| Continuous Tremor | |
| Darkness Tremor | |
| Developmental Academic Disorder | |
| Fine Tremor | |
| Hallucinations | Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. |
| Hangover From Alcohol | |
| Hangover From Any Alcohol Or Other Drugs Substance | |
| Intermittent Tremor | |
| Invasive Cancer | |
| Involuntary Quiver | |
| Mass Of Body Region | |
| Massive Tremor | |
| Memory Disorder, Semantic | |
| Memory Disorder, Spatial | |
| Memory Loss | |
| Nerve Tremors | |
| Neurobehavioral Manifestations | Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. |
| Outbursts | |
| Overnutrition | Updated outdated UMLS CUI. |
| Passive Tremor | |
| Persistent Tremor | |
| Pill Rolling Tremor | |
| Psychotic Symptom | |
| Resting Heart Rate | |
| Resting Tremor | A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. |
| Rhinorrhea | |
| Saturnine Tremor | |
| Senile Tremor | |
| Static Tremor | |
| Tired | |
| Tremor, Limb | |
| Tremor, Muscle | |
| Tremor, Neonatal | |
| Tremor, Perioral | |
| Tremor, Semirhythmic | |
| Duffy Blood Group System, Fy(A-B-) Phenotype | |
| Duffy Blood Group System, Fy(Bwk) Phenotype | |
| Granulocyte Count | |
| Interleukin 8 Measurement | |
| Myeloperoxidase Measurement | |
| Sense Of Smell Impaired | |
| White Blood Cell Count Quantitative Trait Locus 1 | |
| Chemokine (C-C Motif) Ligand 19 Measurement | |
| Cholestatic Pruritus | |
| Flushing | |
| Nociceptive Pain | |
| Synkinesis | |
| Taste Sweet | |
| Hyperextension | |
| Knee Joint Laxity | |
| Knee Pain | |
| Knee Symptoms | |
| Subchondral Hematoma | |
| Thyroxine Measurement | |
| Bradykinesia | Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). |
| Neoplasm Invasiveness | |
| Appendicular Hypotonia | |
| Athetosis | Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements. |
| Myoclonic Spasms | |
| Progressive Microcephaly | Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. |
| Hypophosphatemia | |
| Decreased Light- And Dark-Adapted Electroretinogram Amplitude | |
| Diffuse Hepatic Steatosis | A diffuse form of hepatic steatosis. |
| Gait Disturbance, Ctcae | |
| Intellectual Disability, Progressive | The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. |
| Muscle Damage | disease cluster belonging to disease group normalvariation |
| No Social Interaction | |
| Hypolipidemia | |
| Colorectal Cancer | A large intestine cancer that is located in the colon and/or located in the rectum. |
| Opisthotonus | Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. |
| Adenocarcinoma | A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization. |
| Snoring | |
| Widely Spaced Teeth | Increased spaces (diastemata) between most of the teeth in the same dental arch. |
| Abnormal Form Of The Vertebral Bodies | Abnormal morphology of vertebral body. |
| Cellular Immunodeficiency | |
| Hypopigmented Skin Patches On Arms | |
| Immune Dysregulation | |
| Irregular Vertebral Endplates | An irregular surface of the vertebral end plates, which are normally relatively smooth. |
| Large Iliac Wings | Increased size of the ilium ala. |
| Lordosis | |
| Metaphyseal Irregularity | Irregularity of the normally smooth surface of the metaphyses. |
| Metaphyseal Sclerosis | Abnormally increased density of metaphyseal bone. |
| Progressive Spastic Quadriplegia | |
| Rest Pain | |
| Restrictive Ventilatory Defect | |
| Breast Pain Female | |
| Chronic Ankle Pain | |
| Chronic Pelvic Pain Of Female | |
| Constitutional Symptom | |
| Heliotrope Rash | |
| Hip Joint Pain | |
| Hip Pain | |
| Left Lower Quadrant Pain | |
| Lower Urinary Tract Symptoms | |
| Mastodynia | |
| Neck Pain | |
| Nipple Discharge | |
| Pain In Wrist | |
| Pricking Of Skin | |
| Right Lower Quadrant Pain | |
| Right Upper Quadrant Pain | |
| Shoulder Pain | |
| Skin Damage | |
| Dicarboxylic Acidemia | |
| Impaired Continence | |
| Intermittent Diarrhea | |
| Animal Mammary Neoplasms | |
| Starvation | |
| Broad Nasal Tip | Increase in width of the nasal tip. |
| Drooling | Habitual flow of saliva out of the mouth. |
| Elliptocytosis | hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape |
| Erythema | Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. |
| Glomerulopathy Assessment | |
| Long Palpebral Fissure | Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. |
| Microscopic Hematuria | Microscopic hematuria detected by dipstick or microscopic examination of the urine. |
| Moderate Sensorineural Hearing Impairment | |
| Periorbital Fullness | Increase in periorbital soft tissue. |
| Poor Speech | |
| Pyloric Stenosis | |
| Shortening Of All Distal Phalanges | |
| Thin Upper Lip Vermilion | Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). |
| Tooth, Supernumerary | |
| Widened Subarachnoid Space | |
| X-Linked Dominant Inheritance | A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. |
| Metaplasia | |
| Abnormality Of The Diaphragm | Any abnormality of the diaphragm. |
| Adducted Thumb | In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. |
| Autophagic Vaculoes (Finding) | |
| Axial Muscle Weakness | Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). |
| Breech Presentation | A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. |
| Bulbar Signs | |
| Calf Muscle Hypertrophy | Muscle hypertrophy affecting the calf muscles. |
| Cardiac Conduction Abnormality | |
| Centrally Nucleated Skeletal Muscle Fibers | An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). |
| Clumsiness | Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. |
| Difficulty Walking Up Stairs | |
| Emg: Neuropathic Changes | The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). |
| Fatigable Weakness Of Bulbar Muscles | |
| Fatigable Weakness Of Distal Limb Muscles | |
| Fatigable Weakness Of Respiratory Muscles | |
| Fatiguable Weakness Of Proximal Limb Muscles | |
| Flexion Contracture Of Finger | Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. |
| Frequent Falls | |
| Gowers Sign | A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. |
| Hand Muscle Atrophy | Muscular atrophy involving the muscles of the hand. |
| Handgrip Myotonia | Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. |
| Hypokinesia | Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. |
| Increased Connective Tissue | The presence of an abnormally increased amount of connective tissue. |
| Increased Muscle Lipid Content | An abnormal accumulation of lipids in skeletal muscle. |
| Increased Variability In Muscle Fiber Diameter | An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. |
| Large Fontanelle | |
| Late-Onset Distal Muscle Weakness | |
| Limb-Girdle Muscle Weakness | Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. |
| Long Face | Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). |
| Lung Function Testing Abnormal | |
| Mask-Like Facies | A lack of facial expression often with staring eyes and a slightly open mouth. |
| Multiple Prenatal Fractures | The presence of bone fractures in the prenatal period that are diagnosed at birth or before. |
| Muscle Fiber Necrosis | Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. |
| Muscle Fiber Predominance | |
| Muscle Fiber Splitting | Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. |
| Muscle Weakness Of Limb | |
| Myopathic Facies | A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. |
| Narrow Face | Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). |
| Neck Flexor Weakness | Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). |
| Neck Muscle Weakness | Decreased strength of the neck musculature. |
| Nemaline Bodies | Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. |
| Nocturnal Hypoventilation | |
| Poor Suck | An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. |
| Progressive Muscle Weakness | |
| Reduced Forced Vital Capacity | |
| Reduced Vital Capacity | An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. |
| Respiratory Insufficiency Due To Muscle Weakness | |
| Rimmed Vacuoles On Biopsy | |
| Slender Build | Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. |
| Spinal Rigidity | Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. |
| Tented Upper Lip Vermilion | Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. |
| Thin Rib | |
| Torticollis | |
| Type 1 Fibers Relatively Smaller Than Type 2 Fibers | The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. |
| Weak Cry | |
| Winged Scapula | |
| Wrist-Drop | |
| Aneurysm | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| Carotid Artery Dilatation | |
| Dilatation Of The Cerebral Artery | |
| Dural Ectasia | A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. |
| Hypotonia | |
| Increased Peristalsis | |
| Iris Flocculi | |
| Lung Cancer, Susceptibility To | |
| Mydriasis | Abnormal dilatation of the iris. |
| Periventricular White Matter Hyperdensities | |
| Aplasia/Hypoplasia Of The Breasts | Absence or underdevelopment of the breasts. |
| Burning Sensation | |
| Death In Early Adulthood | Death between the age of 16 and 40 years. |
| Depressed Nasal Tip | Decreased distance from the nasal tip to the nasal base. |
| Disorientation | |
| Echolalia | A speech disorder that involves the automatic repetition of vocalizations made by another person. |
| Electrocardiography | Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY. |
| Externally Rotated Hips | |
| Full Cheeks | Increased prominence or roundness of soft tissues between zygomata and mandible. |
| Generalized Dystonia | A dystonia that affects most or all of the body. |
| Heterochromia Iridis | Heterochromia iridis is a difference in the color of the iris in the two eyes. |
| Hyperphosphaturia | An increased excretion of phosphates in the urine. |
| Infantile Diarrhea | |
| Joint Stiffness | Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. |
| Late Fontanel Closure | |
| Leg Length Inequality | |
| Liver Regeneration Disorder | |
| Muscle Fibrosis | |
| Mutism | A speech disorder that involves a complete inability to speak. |
| Overfolded Helix | A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. |
| Polyclonal Hypergammaglobulinemia | |
| Postnatal Growth Retardation | Slow or limited growth after birth. |
| Rigor - Temperature-Associated Observation | |
| Short Columella | Reduced distance from the anterior border of the naris to the subnasale. |
| Shoulder Girdle Muscle Atrophy | Amyotrophy affecting the muscles of the shoulder girdle. |
| Sore To Touch | |
| Telecanthus | Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. |
| Uterine Prolapse | The presence of prolapse of the uterus. |
| Vascular Anomaly | |
| Wide Nose | Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. |
| Abnormality Of The Pinna | An abnormality of the pinna, which is also referred to as the auricle or external ear. |
| Audiogram Shows Sloping Configuration | |
| Deafness | An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.|An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.|A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. |
| Enlarged Ventricles (In Some Patients) | |
| Eye Coloboma (In Some Patients) | |
| Hearing Loss | A general term for the complete or partial loss of the ability to hear from one or both ears. |
| Heart Defect (In Some Patients) | |
| Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Kyphosis/Scoliosis (In Some Patients) | |
| Large, Squared Nose Tip | |
| Neoplastic Cell Transformation | |
| Pectus (In Some Patients) | |
| Postnatal Microcephaly | Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development. |
| Prominent Nasal Root On Profile | |
| Prominent/Full/Wide Cheeks | |
| Pterygium Colli (In Some Patients) | |
| Retrognathia (In Some Patients) | |
| Short Neck (In Some Patients) | |
| Short Upturned Nose | |
| Trigonocephaly/Metopic Ridge | |
| Young Adult Onset | Onset of disease at the age of between 16 and 40 years. |
| Abdomen Distended | |
| Decreased Peristalsis | |
| Dilatation Of The Bladder | The presence of a dilated urinary bladder. |
| Flexion Contracture Of Proximal Interphalangeal Joint | |
| Megacystis | Dilatation of the bladder postnatally. |
| Prominent Nasal Bridge | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| Round Face | The facial appearance is more circular than usual as viewed from the front. |
| Urinary Retention | Inability to completely empty the urinary bladder during the process of urination. |
| Aplasia/Hypoplasia Of The Nails | Aplasia or developmental hypoplasia of the nail. |
| Cleft Anterior Mitral Valve Leaflet | |
| Abnormal Timing Of Pattern Reversal Visual Evoked Potentials | |
| Absent Speech | Complete lack of development of speech and language abilities. |
| Breath-Holding Spell | |
| Broad-Based Gait | An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. |
| Cerebellar Vermis Hypoplasia | Underdevelopment of the vermis of cerebellum. |
| Eeg With Generalized Epileptiform Discharges | EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. |
| Focal T2 Hyperintense Brainstem Lesion | |
| Global Brain Atrophy | Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. |
| Impaired Smooth Pursuit | An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. |
| Micronychia (Disorder) | |
| Midfrontal Capillary Hemangioma | |
| Misalignment Of Teeth | Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. |
| Multifocal Epileptiform Discharges | |
| Neurodevelopmental Delay | |
| Open Mouth (Finding) | |
| Poor Eye Contact | Difficulty in looking at another person in the eye. |
| Upper Limb Spasticity | |
| Anisocyte Measurement | |
| Anisocytosis | Abnormally increased variability in the size of erythrocytes. |
| Increased Mean Platelet Volume | Average platelet volume above the upper limit of the normal reference interval. |
| Platelet Anisocytosis | |
| Cardiomyocyte Hypertrophy | |
| Sprinting Performance | |
| Abnormal Vertebral Morphology | |
| Broad Femoral Neck | An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| Ectopic Ossification | Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. |
| Progressive Cervical Vertebral Spine Fusion | |
| Short 1St Metacarpal | In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| Small Cervical Vertebral Bodies | Reduced size of cervical vertebrae. |
| Response To Bronchodilator | |
| Microsatellite Instability | |
| Replication Error Phenotype | |
| 2-Oxo-Hept-3-Ene-1,7-Dioate Hydratase Activity | |
| Amblyopia | |
| Choriocapillaris Atrophy | |
| Clubbing | Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. |
| Cyanosis | A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. |
| Epistaxis | Bleeding from the nose. |
| Fingerpad Telangiectases | Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. |
| Hematemesis | The vomiting of blood. |
| Hematochezia | The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. |
| Lip Telangiectasia | Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. |
| Melena | The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. |
| Nail Bed Telangiectasia | Telangiectases in the area of the nails. |
| Palate Telangiectasia | The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. |
| Pulmonary Arterial Remodeling | |
| Right To Left Cardiovascular Shunt (Finding) | |
| Spontaneous, Recurrent Epistaxis | |
| Tricuspid Valve Regurgitation Velocity | |
| Vascular Remodeling | |
| Aplasia/Hypoplasia Of The Cerebellar Vermis | |
| Aplasia/Hypoplasia Of The Corpus Callosum | Absence or underdevelopment of the corpus callosum. |
| Circadian Rhythms | |
| Sudden Cardiac Arrest | |
| Absence Of Lymph Node Germinal Center | Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. |
| Absent Specific Antibody Response | |
| Active Hyperemia | |
| Anterior Rib Cupping | Wide, concave anterior rib end. |
| Anti-Thyroid Peroxidase Antibody Positivity | |
| Atypical Lymphocyte | |
| Autoimmune State | |
| B Lymphocytopenia | An abnormal decrease from the normal count of B cells. |
| Desquamation Of Skin Soon After Birth | |
| Growth Arrest Lines | |
| Hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| Lack Of T Cell Function | |
| Myocardial Reperfusion Injury | |
| Reactive Hyperemia | |
| Recurrent Bacterial Infection | |
| Recurrent Fungal Infections | Increased susceptibility to fungal infections, as manifested by recurrent episodes of fungal infection. |
| Recurrent Opportunistic Infections | Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. |
| Recurrent Viral Infection | |
| Reduced Red Cell Adenosine Deaminase Activity | |
| Severe B Lymphocytopenia | A severe form of B lymphocytopenia in which the count of B cells is very low or absent. |
| Short Toe | A toe that appears disproportionately short compared to the foot. |
| Structural Clinical Interview For Dsm-Iii | |
| Tonsil Absent | |
| Tumor Expansion | |
| Venous Engorgement | |
| Abnormality Of The Genital System | An abnormality of the genital system. |
| Amaurosis | |
| Antiphospholipid Antibody Positivity | The presence of circulating autoantibodies to phospholipids. |
| Delayed Puberty | Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. |
| Hemiparesis | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. |
| Hemiplegia | |
| Memory Performance | Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease. |
| Urticarial Plaque | |
| Vasculitic Rash | |
| Epithelial Cyst | |
| Tumor Immunity | |
| Lumbar Spondylolisthesis | |
| Brain Hypoxia | |
| Pathologic Neovascularization | |
| Bulla | |
| Mucosal Atrophy | |
| Post Embolisation Syndrome | |
| Pustule | A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. |
| Tumor Thrombus | |
| Villous Atrophy | The enteric villi are atrophic or absent. |
| Pulmonary Function | |
| Pulmonary Function (Finding) | |
| Narrow Forehead | Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). |
| Nasal Allergies | |
| Dilatation Of Aorta | |
| Mass Lesion | |
| Broad Metacarpals | Abnormally broad metacarpal bones. |
| Broad Metatarsal | Increased side-to-side width of a metatarsal bone. |
| Broad Skull | Increased width of the skull. |
| Narrow Palate | Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). |
| Shallow Anterior Chamber Of Eye | |
| Shallow Orbits | Reduced depth of the orbits associated with prominent-appearing ocular globes. |
| Thin Bony Cortex | Abnormal thinning of the cortical region of bones. |
| Amputated Structure (Morphologic Abnormality) | |
| Blood Urea Increased | |
| Ecchymosis | |
| Endocapillary Hypercellularity | |
| Obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| Schistocytosis | The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. |
| Septic Shock | disease cluster belonging to disease group immune |
| Serum Creatinine Raised | |
| Urge Incontinence | |
| Lens Tremulous | |
| Luxation Of Lens | |
| Abnormality Of Subcutaneous Fat Tissue | |
| Behavioral And Psychological Symptoms Of Dementia | |
| Central Corneal Thickness | A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma. |
| Cicatrization | |
| Fetal Membranes, Premature Rupture | |
| Fragile Skin | Skin that splits easily with minimal injury. |
| Frontal Open Bite | |
| Gingival Hemorrhage | |
| Hip Joint Varus Deformity - Observation | |
| Late Closure Of Anterior Fontanel | |
| Motor Symptoms | |
| Narcissism | |
| Prolonged Bleeding Time | Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. |
| Recurrent Mandibular Subluxations | Recurrent partial dislocations of the mandible. |
| Redundant Skin | Loose and sagging skin often associated with loss of skin elasticity. |
| Short Extremities | |
| Short Phalanx Of Finger | Short (hypoplastic) phalanx of finger, affecting one or more phalanges. |
| Soft, Doughy Skin | |
| Spontaneous Neonatal Pneumothorax | Pneumothorax occurring neonatally without traumatic injury to the chest or lung. |
| Wide Anterior Fontanel | Enlargement of the anterior fontanelle with respect to age-dependent norms. |
| Menstrual Spotting | |
| Ascites | Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen. |
| Decreased Antibody Level In Blood | |
| Flat Face | Absence of concavity or convexity of the face when viewed in profile. |
| Mild Postnatal Growth Retardation | A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. |
| Pulmonary Lymphangiectasia | Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. |
| Reduced Number Of Teeth | The presence of a reduced number of teeth as in Hypodontia or as in Anodontia. |
| Short Philtrum | Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. |
| Sparse Axillary Hair | Reduced number or density of axillary hair. |
| Vitamin D Measurement | |
| Vitamin D3 Measurement | |
| Corneal Topography | The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty. |
| Delayed Eruption Of Permanent Teeth | Delayed tooth eruption affecting the secondary dentition. |
| Delayed Myelination | Delayed myelination. |
| Polybrominated Biphenyl Measurement | |
| Square Face | Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. |
| High Pitched Voice | An abnormal increase in the pitch (frequency) of the voice. |
| J-Shaped Sella Turcica | A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. |
| Short Foot | A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). |
| Short Long Bone | One or more abnormally short long bone. |
| Short Metacarpals With Rounded Proximal Ends | |
| Short Palm | Short palm. |
| Body Fat Percentage (Physical Finding) | |
| Hip Circumference | |
| Waist Circumference | The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation. |
| Abdominal Bloating | |
| Acrocyanosis | |
| Astrocytosis | Proliferation of astrocytes in the area of a lesion of the central nervous system. |
| Atrophy/Degeneration Involving The Caudate Nucleus | |
| Basal Ganglia Gliosis | The presence of gliosis in the basal ganglia. |
| Chronic Csf Lymphocytosis | Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. |
| Cogwheel Rigidity | |
| Electroretinogram | |
| Extrapyramidal Muscular Rigidity | Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). |
| Gait Ataxia | A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. |
| Increased Csf Interferon Alpha | Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). |
| Increased Serum Interferon-Gamma Level | |
| Loss Of Ability To Walk | |
| Macular Hyperpigmentation | Increased amount of pigmentation in the macula lutea. |
| Macular Hypopigmentation | |
| Multifocal Cerebral White Matter Abnormalities | |
| Pyramidal Sign | |
| Quadriparesis | |
| Small Basal Ganglia | |
| Unexplained Fevers | Episodes of fever for which no infectious cause can be identified. |
| Platinum Measurement | |
| Developmentally Delayed | |
| Interleukin 17 Measurement | |
| Drug Withdrawal Symptoms | |
| Visceral Pain | |
| Heel Toe Gait | |
| Hypercalciuria | |
| Renal Calcium Wasting | High urine calcium in the presence of hypocalcemia. |
| Anosmia | An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. |
| Body Mass Index Procedure | |
| Body Mass Index Quantitative Trait | |
| Finding Of Body Mass Index | |
| Central Hypotonia | Reduced muscle tone secondary to an abnormality of the central nervous system. |
| Facial Myokymia | Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). |
| Myokymia | Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. |
| Upper Limb Hypertonia | |
| Alkalosis | Depletion of acid or accumulation base in the body fluids. |
| Body Weight | The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. |
| Adverse Event Associated With Cardiac Arrhythmia | |
| High-Grade Squamous Intraepithelial Lesions | |
| Overactive Detrusor | |
| Psychomotor Agitation | |
| Retinal Damage | |
| Vitamin B6 Measurement | |
| Elevated Diastolic Blood Pressure | Abnormal increase in diastolic blood pressure. |
| Elevated Mean Arterial Pressure | |
| Elevated Systolic Blood Pressure | Abnormal increase in systolic blood pressure. |
| Supranuclear Gaze Palsy | A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| Allergy To Peanuts | |
| Thyroglobulin Antibody Measurement | |
| Abnormality Of Somatosensory Evoked Potentials | An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. |
| Progressive Spastic Paraparesis | |
| Androstenedione Measurement | |
| Facial Erythema | Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. |
| Invasive Carcinoma | |
| Abnormal Cortical Gyration | An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. |
| Cerebral Dysmyelination | Defective structure and function of myelin sheaths of the white matter of the brain. |
| Cerebral White Matter Hypoplasia | |
| Frontoparietal Polymicrogyria | An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region. |
| Gait Imbalance | |
| Generalized Weakness Of Limb Muscles | |
| Impaired Toileting Ability | |
| Perisylvian Polymicrogyria | |
| Infertility | Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. |
| Ankylosis | Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. |
| Blood Pressure | PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS. |
| Scoliosis, Idiopathic, Susceptibility To, 1 (Finding) | |
| Ulnar Deviation | |
| Mean Blood Pressure | |
| Memory, Short-Term | Remembrance of information for a few seconds to hours. |
| Multiple Malignancy | |
| Abnormality Of Dental Color | A developmental defect of tooth color. |
| Aplasia/Hypoplasia Of The Cerebellum | |
| Eeg With Spike-Wave Complexes | Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| Generalized Tonic Seizures | Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes. |
| Hair Color | Color of hair or fur. |
| Limited Knee Extension | |
| Loose Stool | |
| Obsessive-Compulsive Disorder | An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. |
| Pigmentary Iris Degeneration | |
| Poor Fine Motor Coordination | |
| Progressive Visual Loss | A reduction of previously attained ability to see. |
| Retinal Depigmentation | |
| Tibial Torsion | Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. |
| Visual Symptoms | |
| Abuse Neglect | |
| Alcohol Flush Reaction | |
| Alcohol Problem | |
| Anterior Choroidal Artery Infarction | |
| Cerebral Infarction, Left Hemisphere | |
| Cerebral Infarction, Right Hemisphere | |
| Drunk Driving | |
| Hazardous Drinking | |
| Posterior Choroidal Artery Infarction | |
| Sodium Measurement | |
| Excessive Drinking | |
| Micrographia | |
| Neuronal Loss In Central Nervous System | This finding can be demonstrated by neuropathology. |
| Personality Change | |
| Short Stepped Shuffling Gait | |
| Substantia Nigra Gliosis | The presence of gliosis in the substantia nigra. |
| Urinary Urgency | Urge incontinence is the strong, sudden need to urinate. |
| Voice Fatigue | |
| Adiponectin Measurement | Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Adiponectin levels have been shown to beinversely correlated with with the risk of type 2 diabetes, coronary artery disease, stroke, and several metabolic traits. |
| Adiponectin, Serum Level Of, Quantitative Trait Locus 1 | |
| Adiponectin, Serum Level Of, Quantitative Trait Locus 2 | |
| Adiponectin, Serum Level Of, Quantitative Trait Locus 3 | |
| Adolescent Obesity | |
| Decreased Adipose Tissue | |
| Eating Disorder Symptom | |
| Hot Flushes | |
| Hunger | |
| Hyperglycemia, Postprandial | |
| Metabolic Symptoms | |
| Monogenic Obesity | |
| Sneezing | The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT. |
| Stage, Gastric Cancer | |
| Thin-Cap Fibroatheroma | |
| Female Infertility | |
| Female Sterility | |
| Sterility, Postpartum | |
| Narrow Foot | A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. |
| Neurodevelopmental Abnormality | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Acidosis | Abnormal acid accumulation or depletion of base. |
| Acute Abdominal Pain | |
| Acute Dyspnea | |
| Allodynia | Pain due to a stimulus that does not normally provoke pain. |
| Mechanical Pain | |
| Orthostasis | |
| Presyncope | |
| Pyemia | |
| Sclerosis | |
| Shock | |
| Stenosis | |
| Swelling Of Limb | |
| Orchitis | |
| Abnormal Trachea Morphology | any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi |
| Actual Aspiration | |
| Aggressive Behavior | A behavioral interaction between organisms in which one organism has the intention of inflicting physical damage on another individual. |
| Aspiration, Ctcae | |
| Choroid Plexus Cyst | A cyst occurring within the choroid plexus within a cerebral ventricle. |
| Chronic Constipation | Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. |
| Cortical Visual Impairment | |
| Difficulty Chewing | |
| Endotracheal Aspiration | |
| Focal White Matter Lesions | |
| Gastrostomy Tube Feeding In Infancy | |
| Generalized Neonatal Hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. |
| High Anterior Hairline | Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. |
| Hyperphagia | |
| Moderate Global Developmental Delay | A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. |
| Premature Tooth Eruption | |
| Protruding Ear | Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). |
| Pulmonary Aspiration | |
| Recurrent Infections | Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. |
| Sandal Gap | A widely spaced gap between the first toe (the great toe) and the second toe. |
| Single Transverse Palmar Crease | The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. |
| Slanting Of The Palpebral Fissure | |
| Small Hand | Disproportionately small hand. |
| Stereotypic Movement Disorder | A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. |
| Stricture Of Anus | |
| Truncal Obesity | Obesity located preferentially in the trunk of the body as opposed to the extremities. |
| Unintentional Material Aspiration | |
| Bradycardia | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| Embolic Infarction, Middle Cerebral Artery | |
| Induced Hypothermia (Finding) | |
| Left Middle Cerebral Artery Infarction | |
| Middle Cerebral Artery Embolus | |
| Middle Cerebral Artery Syndrome | |
| Perinatal Subarachnoid Hemorrhage | |
| Right Middle Cerebral Artery Infarction | |
| Subarachnoid Hemorrhage, Aneurysmal | |
| Subarachnoid Hemorrhage, Intracranial | |
| Subarachnoid Hemorrhage, Spontaneous | |
| Thrombotic Infarction, Middle Cerebral Artery | |
| Waxy Flexibility | |
| Early Awakening | |
| Rebound Insomnia | |
| Secondary Insomnia | |
| Transient Insomnia | |
| Axonal Loss | A reduction in the number of axons in the peripheral nervous system. |
| Fasciculation, Tongue | |
| Bladder Pain | |
| Left Ventricle Remodeling | |
| Cardiac Hypertrophy | an increase in size of the cardiac tissue, not due to increased cell number |
| Inattention | |
| Eeg With Irregular Generalized Spike And Wave Complexes | |
| Eeg With Photoparoxysmal Response | |
| Enhancement Of The C-Reflex | |
| Giant Somatosensory Evoked Potentials | |
| Jerk-Locked Premyoclonus Spikes | |
| Nonprogressive | |
| Vasomotor Symptom | |
| Diastolic Blood Pressure Measurement | |
| Decreased Resting Energy Expenditure | |
| Hypokalemia | |
| Increased Waist To Hip Ratio | |
| Labor Pain | |
| Nocturnal Cough | |
| Photopsia | |
| Status Asthmaticus | An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. |
| Petechiae Of Skin | |
| Breast Size | Is a quantification of some aspect of breast size |
| Cerebral Hypomyelination | Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. |
| Difficulty Standing | |
| Dysmorphic Facies | |
| Flat Occiput | Reduced convexity of the occiput (posterior part of skull). |
| Hypointensity Of Cerebral White Matter On Mri | A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. |
| Inappropriate Laughter | |
| Severe Psychomotor Retardation | |
| Atrophic Scar | |
| Atrophy Of Quadriceps Femoris Muscle | |
| Blepharospasm, Benign Essential, Susceptibility To | |
| Decreased Achilles Reflex | Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. |
| Difficulty Running | Reduced ability to run. |
| Distal Lower Limb Muscle Weakness | Reduced strength of the distal musculature of the legs. |
| Distal Upper Limb Muscle Weakness | Reduced strength of the distal musculature of the arms. |
| Facial Muscle Weakness Of Muscles Innervated By Cn Vii | |
| Facial Paresis | |
| Gait, Drop Foot | |
| Hyporeflexia Of Lower Limbs | Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. |
| Pseudobulbar Signs | Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. |
| Quadriceps Weakness | |
| Tip-Toe Gait | An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait. |
| Triceps Weakness | |
| Recurrent Skin Infections | Infections of the skin that happen multiple times. |
| Cellulitis | |
| Poor Wound Healing | A reduced ability to heal cutaneous wounds. |
| Prematurely Aged Appearance | |
| Prominent Superficial Veins | A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. |
| Range Of Joint Movement Increased | |
| Squared Iliac Bones | A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. |
| Structural Foot Deformity | |
| Thin Eyebrow | |
| Thoracic Scoliosis | |
| Ventral Hernia | |
| Skin Ulcer | A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. |
| Mitochondrial Pathology | |
| Response To Alcohol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alcohol stimulus. |
| Bilirubin Measurement | A bilirubin measurement is a quantification of bilirubin typically measured in serum. |
| Prominent Ear Helix | |
| Triangular Tibia | |
| Thick Hair | Increased density of hairs, i.e., and elevated number of hairs per unit area. |
| Abnormal Gallbladder Function | |
| Abnormal Ocular Motility | |
| Birth Length Less Than 3Rd Percentile | |
| Diplopia | Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. |
| Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| Dysmetric Saccades | The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. |
| Head Tremor | An unintentional, oscillating to-and-fro muscle movement affecting head movement. |
| Kinetic Tremor | Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. |
| Ophthalmoparesis | Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. |
| Slowed Saccades | |
| Eye Color | Color of the iris. |
| Abnormal Fetus | |
| Alpha-Fetoprotein, Hereditary Persistence Of | |
| Cardiac Cirrhosis | |
| Decreased Levels Of Alpha-Fetoprotein | |
| Hyperornithinemia | Increased concentration of ornithine in the blood. |
| Isochromosomes | |
| Simpson-Golabi-Behmel Syndrome | An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. |
| Single Tumor | |
| Vasa Previa | |
| Abdominal Symptom | |
| Abnormality Of Amino Acid Metabolism | Abnormality of an amino acid metabolic process. |
| Abnormality Of The Ulna | An abnormality of the ulna bone of the forearm. |
| Aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| Aspartylglucosaminuria, Finnish Type | |
| Beaking Of Vertebral Bodies | Anterior tongue-like protrusions of the vertebral bodies. |
| Broad Face | Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). |
| Dyspepsia | |
| Irritable Bowel Syndrome Characterized By Constipation | |
| Large Face | |
| Pathological Fracture | |
| Prothrombin Time Low | |
| Thickened Calvaria | The presence of an abnormally thick calvaria. |
| Vacuolated Lymphocyte Count | |
| Vacuolated Lymphocytes | The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. |
| Insulin Sensitivity Measurement | |
| Triiodothyronine Measurement | |
| Abnormality Of Brain Morphology | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Nervousness | |
| Peripheral Visual Field Loss | Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. |
| Bacteremia | An infection that has as part bacteria located in the blood. |
| Central Post-Stroke Pain | |
| Glial Scar | |
| Hypertrophy | Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. |
| Lower Limb Ischemia | |
| Nerve Pain | |
| Paroxysmal Nerve Pain | |
| Easy Fatigability | Increased susceptibility to fatigue. |
| Taste Perception (Mental Process) | |
| Heart Rate | The number of times the HEART VENTRICLES contract per unit of time, usually per minute. |
| Skin Irritant | |
| Violence | |
| Abnormality Of Skeletal Muscle Fiber Size | Any abnormality of the size of the skeletal muscle cell. |
| Broad Foot | A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. |
| Cystic Angiomatosis Of Bone | Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. |
| Decreased Fertility In Females | |
| Decreased Serum Leptin | A decreased concentration of leptin in the blood. |
| Dysmenorrhea | Pain during menstruation that interferes with daily activities. |
| Generalized Muscular Appearance From Birth | |
| Growth Hormone Excess | |
| Increased Fracture Rate | |
| Insulin-Resistant Diabetes Mellitus At Puberty | |
| Long Foot | Increased back to front length of the foot. |
| Loss Of Subcutaneous Adipose Tissue In Limbs | Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. |
| Oligomenorrhea | Infrequent menses (less than 6 per year or more than 35 days between cycles). |
| Palpitations | A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. |
| Palpitations, Ctcae | |
| Prolonged Qtc Interval | |
| Prolonged Qtc Interval, Ctcae | |
| Prominent Umbilicus | Abnormally prominent umbilicus (belly button). |
| Reduced Intraabdominal Adipose Tissue | |
| Reduced Intrathoracic Adipose Tissue | |
| Reduced Subcutaneous Adipose Tissue | The presence of an abnormally reduced amount of subcutaneous adipose tissue. |
| Secondary Amenorrhea | |
| Skeletal Muscle Hypertrophy | The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. |
| Short Humerus | Underdevelopment of the humerus. |
| Stippled Epiphyses | |
| Aggressive Cancer | |
| Processing Speed | |
| Abnormality Of Masticatory Muscle | |
| Ankle Weakness | |
| Choking Episodes | |
| Decreased Miniature Endplate Potentials | An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. |
| Eeg With Polyspike Wave Complexes | |
| Emg: Decremental Response Of Compound Muscle Action Potential To Repetitive Nerve Stimulation | A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. |
| Emg: Impaired Neuromuscular Transmission | An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). |
| Episodic Respiratory Distress | |
| Frontalis Muscle Weakness | |
| Hip Flexor Weakness | |
| Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness | |
| Microretrognathia | A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. |
| Muscle Fiber Atrophy | |
| Narrow Jaw | |
| Nasal Regurgitation | |
| Nasal Voice | |
| Orthopnea | |
| Respiratory Arrest | |
| Staring Gaze | |
| Stridor | Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. |
| Thoracic Kyphoscoliosis | |
| Toe-Walking Gait | |
| Weakness Of Long Finger Extensor Muscles | |
| Weakness Of The Intrinsic Hand Muscles | |
| Decompensated Cirrhosis Of Liver | |
| Thinness | |
| Abruptio Placentae | |
| Dissection, Blood Vessel | |
| Distributive Shock | |
| Hypouricemia | An abnormally low level of uric acid in the blood. |
| Infarction | |
| Neointima Formation | |
| Peptic Ulcer Hemorrhage | |
| Postexertional Fatigue | |
| Thrombus | |
| Areflexia | Absence of neurologic reflexes such as the knee-jerk reaction. |
| Bell-Shaped Thorax | The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, follwed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. |
| Decreased Muscle Mass | |
| Hypometric Saccades | Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. |
| Overfolding Of The Superior Helices | A condition in which the superior portion of the helix is folded over to a greater degree than normal. |
| Allergy To Fish | |
| Bone Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. |
| Calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| Decreased Glomerular Filtration Rate | An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. |
| Dysuria | Painful or difficult urination. |
| Enuresis | Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. |
| Occlusion Of Artery (Disorder) | |
| Retinal Crystals | |
| Elevated Coagulation Factor V Activity | |
| Hyperintensity Of Cerebral White Matter On Mri | |
| Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency | |
| Reduced Factor Vii Activity | |
| Response To Fenofibrate | |
| Cortical Gyral Simplification | An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex. |
| Expressive Language Delay | A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. |
| Biparietal Narrowing | A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). |
| Delayed Ability To Walk | |
| Elongated Superior Cerebellar Peduncle | Increased length of the superior cerebellar peduncle. |
| Enlarged Fossa Interpeduncularis | |
| Molar Tooth Sign On Mri | An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. |
| Neonatal Breathing Dysregulation | |
| Atrophic | |
| Bone Resorption | The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. |
| Chemical Carcinogenesis | |
| Contact Hypersensitivity | |
| Hyperventilation | Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. |
| Infantile Nystagmus | |
| Nicotine Use Disorder | |
| Potassium Measurement | |
| Severe Dry Skin | |
| Tachyarrhythmia | |
| Tumor Promotion | |
| [D]Sleep Disturbances (& [Hypersomnia] Or [Insomnia]) | |
| Auricular Swelling | |
| Glossalgia | |
| Orofacial Pain | |
| Radicular Pain | |
| Sciatica | Pain in the lower back and hip radiating in the distribution of the sciatic nerve. |
| Microcalcification | |
| Sparse Body Hair | Sparseness of the body hair. |
| Impaired Ig Class Switch Recombination | An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. |
| Recurrent Infection Of The Gastrointestinal Tract | Recurrent infection of the gastrointestinal tract. |
| Recurrent Upper And Lower Respiratory Tract Infections | |
| Alcohol Effect | |
| Corneal Ghost Vessels | |
| Abnormal Brainstem Mri Signal Intensity | |
| Abnormal Corpus Striatum Morphology | |
| Abnormal Middle Ear Reflexes | |
| Abnormal Speech Discrimination | A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. |
| Abnormality Of The Astrocytes | An abnormality of astrocytes. |
| Abnormality Of The Basal Ganglia | |
| Abnormality Of The Optic Nerve | Abnormality of the optic nerve. |
| Enlargement Of The Wrists | |
| Increased Csf Lactate | Increased concentration of lactate in the cerebrospinal fluid. |
| Large Knee | |
| Muscular Fasciculation | |
| Ragged-Red Muscle Fibers | An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. |
| Reduced Bone Mineral Density | A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. |
| Sensory Axonal Neuropathy | An axonal neuropathy of peripheral sensory nerves. |
| Large Basal Ganglia | Increased size of the basal ganglia. |
| Progressive Flexion Contractures | Progressively worsening joint contractures. |
| Projectile Vomiting | Vomiting that ejects the gastric contents with great force. |
| Low Hanging Columella | Columella extending inferior to the level of the nasal base, when viewed from the side. |
| Abnormality Of Nail Of Toe | |
| Amenorrhea | |
| Biconcave Vertebral Bodies | Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. |
| Bitemporal Hemianopia | |
| Broad Jaw | Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). |
| Compression Fracture Of Vertebral Column | |
| Decreased Circulating Acth Level | An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. |
| Decreased Female Libido | |
| Decreased Fertility In Males | |
| Deep Palmar Crease | Excessively deep creases of the palm. |
| Dyspareunia | |
| Increased Circulating Acth Level | An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. |
| Increased Serum Insulin-Like Growth Factor 1 | |
| Increased Size Of Penis | |
| Internal Ophthalmoplegia | |
| Irregular Menstruation | |
| Joint Swelling | |
| Paresthesia | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| Sudden Loss Of Visual Acuity | |
| Abnormality Of Fundus Pigmentation | |
| Abnormality Of The Optic Disc | A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. |
| Atrophic Macular Change | |
| Autoimmune Polyglandular Syndrome | disease cluster belonging to disease group immune |
| Decreased Circulating Parathyroid Hormone Level | reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body |
| Hypopigmented Skin Patch | |
| Increased Circulating Cortisol Level | Abnormally increased concentration of cortisol in the blood. |
| Abnormality Of Mitochondrial Metabolism | A functional anomaly of mitochondria. |
| Adverse Event By Ctcae Category | |
| Bilateral Deafness | |
| Complete Hearing Loss | |
| Impaired T Cell Function | |
| Cardiac Conduction Defect | |
| Increased Risk Of Sudden Cardiac Death | |
| Peripartum Cardiomyopathy | |
| Abnormal Cardiac Exercise Stress Test | |
| Abnormal T-Wave | |
| Continuous Electrocardiogram Sinus Bradycardia (Finding) | |
| Sinus Bradycardia | Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. |
| Sinus Bradycardia, Ctcae | |
| Intestinal Polyps | |
| Lens Opacities | |
| Poorly Differentiated Carcinoma | |
| Neoplasms, Hormone-Dependent | |
| Sex Reversal | Development of the reproductive system is inconsistent with the chromosomal sex. |
| Manic | |
| Neonatal Cholestatic Liver Disease | |
| Abnormal Subcutaneous Fat Tissue Distribution | |
| Acute Retention Of Urine | |
| Arterial Thrombosis | The formation of a blood clot inside an artery. |
| Asymmetry Of The Thorax | Lack of symmetry between the left and right halves of the thorax. |
| Calvarial Hyperostosis | Excessive growth of the calvaria. |
| Central Heterochromia | |
| Colon Diverticulum Anatomic Structure | |
| Disproportionate Tall Stature | A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. |
| Facial Asymmetry | An abnormal difference between the left and right sides of the face. |
| Facial Hyperostosis | Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. |
| Generalized Hyperkeratosis | |
| Hyperplasia | An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.|An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement. |
| Irregular Hyperpigmentation | |
| Muscular Atrophy | |
| Narrow Internal Auditory Canal | |
| Negativism | |
| Neurogenic Muscular Atrophy | |
| Progressive Macrocephaly | The progressive development of an abnormally large skull. |
| Severe Congenital Neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
| Skin Papule | |
| Skin Tag | |
| Social And Occupational Deterioration | |
| Abnormal Circulating Insulin Level | any anomaly in the blood concentration of the polypeptide hormone, secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids |
| Decreased Adiponectin Level | reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue |
| Increased Hepatic Glycogen Content | An increase in the amount of glycogen stored in hepatocytes compared to normal. |
| Increased Intraabdominal Fat | An abnormal increase in the amount of intraabdominal fat tissue. |
| Large Tonsils (Finding) | |
| Abdominal Colic | |
| Elevated Urinary Delta-Aminolevulinic Acid | An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. |
| Lead Poisoning, Susceptibility To | |
| Respiratory Paralysis | Inability to move the muscles of respiration. |
| Abnormality Of Iron Homeostasis | An abnormality of the homeostasis (concentration) of iron cation. |
| Increased Erythrocyte Protoporphyrin Concentration | An increased concentration of protoporphyrins in erythrocytes. |
| Abdominal Tenderness | |
| Acidosis, Respiratory | |
| Albumin B Phenotype | |
| Albumin Blenheim Phenotype | |
| Allergy To Penicillin | |
| Analbuminemia | |
| Analbuminemia Baghdad | |
| Atrial Tachycardia | |
| Breast Cancer Lymphedema | |
| Consciousness Disorders | |
| Cow Milk Allergy | Hypersensitivity in form of an adverse immune reaction against cow milk protein. |
| Delayed Hypersensitivity | |
| Fat Redistribution | |
| Flatulence | |
| Gastrointestinal Wall Thickening | |
| Headache Associated With Sexual Activity | |
| Hepatic Insufficiency | |
| Hiv Seropositivity | |
| Hunger Vital Sign | |
| Hyperemesis Gravidarum | Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. |
| Impulsive Character (Finding) | |
| Increased Alpha-Globulin | |
| Increased Antibody Level In Blood | |
| Infant, Extremely Low Birth Weight | |
| Low Pulse Pressure | |
| Murphy'S Sign | |
| Muscle Cramp | |
| Oliguria | Low output of urine, clinically classified as an output below 300-500ml/day. |
| Parastomal Hernia | |
| Pharyngocutaneous Fistula | |
| Postoperative Septic Shock | |
| Protein-Energy Malnutrition | |
| Recurrent Lower Respiratory Tract Infection | |
| Cheyne-Stokes Respiration | |
| Abnormality Of Pain Sensation | Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. |
| Abnormality Of The Dorsal Column Of The Spinal Cord | An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. |
| Accidental Falls | |
| Carpal Bone Hypoplasia | Underdevelopment of one or more carpal bones. |
| Dysfunction Of Lateral Corticospinal Tracts | |
| Generalized Joint Laxity | Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. |
| Hyperactive Patellar Reflex | |
| Hyperreflexia In Upper Limbs | |
| Increased Frequency Of Micturition | |
| Lower Limb Hypertonia | |
| Lower Limb Spasticity | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| Migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| Narrow Nasal Ridge | Decreased width of the nasal ridge. |
| Orbital Separation Diminished | |
| Pain In Lower Limb | |
| Primitive Reflex | |
| Primitive Reflexes (Palmomental, Snout, Glabellar) | |
| Progressive Gait Ataxia | A type of gait ataxia displaying progression of clinical severity. |
| Progressive Inability To Walk | |
| Progressive Pes Cavus | |
| Prominent Superficial Blood Vessels | |
| Skin Wrinkling | |
| Wide Cranial Sutures | An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). |
| Muscle Twitches | |
| Acquired Meningomyelocele | |
| High Density Lipoprotein Cholesterol Level Quantitative Trait | |
| Alcohol Sensitivity, Acute | |
| Esophageal Cancer, Alcohol-Related, Susceptibility To | |
| Facial Flushing After Alcohol Intake | |
| General Discomfort | |
| Hangover, Susceptibility To (Finding) | |
| Sublingual Nitroglycerin, Susceptibility To Poor Response To | |
| Corneal Scar | |
| Opacification Of The Corneal Epithelium | Lack of transparency of the corneal epithelium. |
| Thoracic Kyphosis | Over curvature of the thoracic region, leading to a round back or if sever to a hump. |
| Hydroxyprolinuria | An increased concentration of 4-hydroxy-L-proline the urine. |
| Focal Neurologic Deficits | |
| Neurologic Dysfunction | |
| Neurologic Manifestations | |
| Neurologic Signs | |
| Bodily Pain | |
| Circling Gait | |
| Prenatal Movement Abnormality | An abnormality of fetal movement. |
| Aldh9A1*2 Polymorphism | |
| Normochromic Anemia | |
| Bicarbonaturia | Abnormally increased concentration of hydrogencarbonate in the urine. |
| Episodic Hyperhidrosis | Intermittent episodes of abnormally increased perspiration. |
| Hypermagnesemia | An abnormally increased magnesium concentration in the blood. |
| Hypermagnesemia, Ctcae | |
| Hyperuricosuria | An abnormally high level of uric acid in the urine. |
| Proximal Tubulopathy | Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. |
| Reduced Aldolase Level | |
| Transient Aminoaciduria | |
| Abnormal Amniotic Fluid | |
| Abnormal Delivery | An abnormality of the birth process. |
| Abnormality Of Immune System Physiology | A functional abnormality of the immune system. |
| Encephalopathy | |
| Metatarsalgia | |
| Moderate Intrauterine Growth Retardation | |
| Primary Caesarian Section | |
| Temperature Instability | Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. |
| Transferrin Isoform Profile | |
| Eeg With Burst Suppression | The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. |
| Butterfly Vertebrae | In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra. |
| Partial Thromboplastin Time Increased (Finding) | |
| Short Ribs | Reduced rib length. |
| Short Tibia | Underdevelopment (reduced size) of the tibia. |
| Favorable Response Of Weakness To Acetylcholine Esterase Inhibitors | |
| Increased Jitter At Single Fibre Emg | |
| Muscle Fiber Tubular Inclusions | |
| Long Fingers | The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. |
| Interleukin 10 Measurement | |
| Elevated Serum Transaminases During Infections | Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. |
| Reduced Factor Xi Activity | |
| Abnormal Isoelectric Focusing Of Serum Transferrin | Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. |
| Convex Nasal Ridge | Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. |
| Narrow Sacrosciatic Notch | |
| Periportal Fibrosis | The presence of fibrosis affecting the interlobular stroma of liver. |
| Underdeveloped Nasal Alae | Thinned, deficient, or excessively arched ala nasi. |
| Cicatrix | |
| Elevated Urinary Catecholamines | An increased concentration of catecholamine in the urine. |
| Granulocyte Colony Stimulating Factor Measurement | |
| Granuloma, Plasma Cell | |
| Neoplasm Recurrence, Local | |
| Neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| Severe Cutaneous Adverse Reactions (Smq) | |
| Abnormally Large Globe | |
| Childhood-Onset Truncal Obesity | Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. |
| Mild Short Stature | A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. |
| Small Testicle | |
| External Genital Hypoplasia | Underdevelopment of part or all of the external reproductive organs. |
| Paralysed | |
| Multiple Organ Failure | |
| Response To Epirubicin | |
| Dysbiosis | |
| Decreased Calvarial Ossification | Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). |
| Disproportionate Short-Limb Short Stature | A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. |
| Elevated Plasma Pyrophosphate | An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. |
| Elevated Urine Pyrophosphate | An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. |
| Increased Susceptibility To Fractures | An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. |
| Inorganic Phosphate Measurement | |
| Low Alkaline Phosphatase | Abnormally reduced serum levels of alkaline phosphatase activity. |
| Metaphyseal Cupping | Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. |
| Phosphorus Measurement | |
| Precocious Exfoliation Of Primary Tooth | |
| Premature Loss Of Permanent Teeth | Premature loss of the permanent teeth. |
| Short Leg | |
| Skin Dimple Over Apex Of Long Bone Angulation | |
| Stillbirth | Death of the fetus in utero after at least 20 weeks of gestation. |
| Unossified Vertebral Bodies | A lack of ossification of the vertebral bodies. |
| Vertebral Clefting | Schisis (cleft or cleavage) of vertebral bodies. |
| Vitamin B12 Measurement | is a quantification of Vitamin B12, vitamin B12 or vitamin B-12, is a water-solublevitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins. It is normally involved in themetabolism of every cell of the human body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis. |
| Hepatic Necrosis | The presence of necrosis affecting the liver. |
| Abnormal Lower Motor Neuron Morphology | Any structural anomaly of the lower motor neuron. |
| Abnormality Of The Bladder | An abnormality of the urinary bladder. |
| Abnormality Of The Corticospinal Tract | Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. |
| Difficulty In Tongue Movements | |
| Emg: Chronic Denervation Signs | Evidence of chronic denervation on electromyography. |
| Pseudobulbar Behavioral Symptoms | Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. |
| Saccadic Smooth Pursuit | An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. |
| Spasticity Of Facial Muscles | Spasticity of one or more muscles innervated by the facial nerve. |
| Spasticity Of Pharyngeal Muscles | |
| Aplasia/Hypoplasia Of The Frontal Sinuses | Absence or underdevelopment of frontal sinus. |
| Coloboma Of Superior Eyelid | |
| Preauricular Skin Tag | A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear). |
| Prominent Glabella | Forward protrusion of the glabella. |
| Sparse Eyebrow | Decreased density/number and/or decreased diameter of eyebrow hairs. |
| Sparse Eyelashes | Decreased density/number of eyelashes. |
| Bifid Nasal Tip | A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. |
| Frontal Cutaneous Lipoma | Presence of a cutaneous lipoma on the forehead. |
| Widely-Spaced Maxillary Central Incisors | Increased distance between the maxillary central permanent incisor tooth. |
| Broad Columella | Increased width of the columella. |
| Broad Philtrum | Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. |
| Fine Hair | Hair that is fine or thin to the touch. |
| Prominent Occiput | Increased convexity of the occiput (posterior part of the skull). |
| Short Palpebral Fissure | Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. |
| Sparse And Thin Eyebrow | |
| Symmetrical, Oval Parietal Bone Defects | |
| Bilateral Single Transverse Palmar Creases | The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. |
| Dental Enamel Pits | The presence of small depressions in the dental enamel. |
| Bacteriuria | A urinary system disease which consists of the presence of bacteria in urine. |
| Flank Pain | |
| Choroidal Retinal Neovascularization | |
| Vitreomacular Adhesion | |
| Fibular Aplasia | Absence of the fibula. |
| Fibular Hypoplasia | Underdevelopment of the fibula. |
| Flexion Contracture Of Toe | One or more bent (flexed) toe joints that cannot be straightened actively or passively. |
| High Iliac Wings | Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). |
| Natal Teeth | |
| Paranasal Sinus Hypoplasia | Underdevelopment of the paranasal sinuses. |
| Acute Postoperative Pain | |
| Anovulation | |
| Isosexual Precocious Puberty | |
| Menopausal Symptom | |
| Numbness | |
| Stage, Endometrial Carcinoma | |
| Abnormal Renal Function | |
| Broad Distal Phalanx Of Finger | Abnormally wide (broad) distal phalanx of finger. |
| Large Forehead | |
| Obsolete Abnormal Heart Morphology | |
| Small Midface | |
| Anasarca | An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. |
| Extravasation Of Contrast Media | |
| Hypesthesia | |
| Malabsorption Of Vitamin B12 | |
| Excessive Daytime Sleepiness | |
| Exercise-Induced Muscle Fatigue | An abnormally increased tendency towards muscle fatigue induced by physical exercise. |
| Increased Muscle Fatiguability | An abnormal, increased fatiguability of the musculature. |
| Facial Hypotonia | Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| Gait, Scissors | |
| Short Upper Lip | Decreased width of the upper lip. |
| Qrs Complex Feature | |
| Systolic Blood Pressure Measurement | |
| Hyperglycinemia | An elevated concentration of glycine in the blood. |
| Recurrent Singultus | A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. |
| Emotional Abuse | |
| Pain In Children | |
| Restlessness | |
| Urinary Incontinence Of Non-Organic Origin | |
| Qt Interval Feature (Observable Entity) | |
| Acute-Phase Reaction | |
| Fatigable Weakness Of Swallowing Muscles | |
| Corneal Thickening | |
| Decreased Ldl Cholesterol Concentration | |
| Hepatic Impairment | |
| Plasma Triglyceride Level Quantitative Trait Locus | |
| Abnormal Circle Of Willis Morphology | |
| Abnormality Of Brainstem Morphology | An anomaly of the brainstem. |
| Ankle Brachial Pressure Index (Observable Entity) | |
| Calcium Pyrophosphate Dihydrate Deposition | |
| Chills | |
| Extramedullary Hematopoiesis | The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. |
| Hypoalgesia | decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) |
| Increased Mean Corpuscular Hemoglobin Concentration | greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices |
| Increased Red Cell Osmotic Fragility | |
| Maculopapular Lesion | |
| Sacral Dimple | A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft . |
| Spherocytosis | The presence of erythrocytes that are sphere-shaped. |
| Electrocardiogram Change | |
| Premature Cardiac Complex | |
| Bruxism | A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. |
| Abnormality Of The Vertebral Column | Any abnormality of the vertebral column. |
| Bony Paranasal Bossing | |
| Calcification Of Cartilage | |
| Calvarial Osteosclerosis | An increase in bone density affecting the calvaria (roof of the skull). |
| Club-Shaped Distal Femur | An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. |
| Nasal Obstruction Present Finding | |
| Manic Symptom | |
| Ritual Compulsion | |
| Frontal Lobe Hypoplasia | |
| Cutaneous Syndactyly | A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. |
| Exaggerated Cupid'S Bow | More pronounced paramedian peaks and median notch of the Cupid's bow. |
| Macrodontia | Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. |
| Persistent Open Anterior Fontanelle | The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. |
| Prominent Fingertip Pads | A soft tissue prominence of the ventral aspects of the fingertips. The term persistent fetal fingertip pads is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. |
| Proximal Placement Of Thumb | Proximal mislocalization of the thumb. |
| Vertebral Arch Anomaly | A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. |
| Oral Lesion | |
| Interferon Alpha Measurement | |
| Anti-Nuclear Factor Positive | |
| Elevated C-Reactive Protein Level | An abnormal elevation of the C-reactive protein level in serum. |
| Esr Raised | |
| Cortisol Measurement | |
| Edema Disease | |
| Reduced Ejection Fraction | |
| Response To Ace Inhibitor | |
| Enlarged Kidney | larger than average size of the kidney |
| Cancer Angiogenesis | |
| Dumping Syndrome | |
| Abnormal Enzyme/Coenzyme Activity | An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. |
| Downbeat Nystagmus | Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. |
| Hypermetric Saccades | A saccade that overshoots the target with the dynamic saccade. |
| Leg Muscle Stiffness | |
| Tortuosity Of Conjunctival Vessels | The presence of an increased number of twists and turns of the conjunctival blood vessels. |
| Estradiol Level Result | |
| Estradiol Measurement | Is a quantification of circulating estradiol a circulating steriod sex hormone. |
| Abnormality Of The Larynx | An abnormality of the larynx. |
| Cervical Dystonia | A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. |
| Oromandibular Dystonia | A focal dystonia that is characterized by distortions of the mouth and tongue. |
| Upper Limb Postural Tremor | A type of tremors that is triggered by holding an arm in a fixed position. |
| Vocal Tremor | |
| Acquired Genu Recurvatum | |
| Blood Thyroid Stimulating Hormone Analysis | |
| Bowing Of The Long Bones | A bending or abnormal curvature of a long bone. |
| Calf Muscle Pseudohypertrophy | Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. |
| Calf Muscle Weakness | |
| Cardiac Troponin I Measurement | |
| Diaphyseal Cortical Sclerosis | An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| Emg: Axonal Abnormality | Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. |
| Emg: Myotonic Runs | Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). |
| Fatty Replacement Of Skeletal Muscle | Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers |
| Internally Nucleated Skeletal Muscle Fibers | |
| Lower Limb Amyotrophy | Muscular atrophy affecting the lower limb. |
| Myoglobinuria | Presence of myoglobin in the urine. |
| Pelvic Girdle Weakness | |
| Proximal Muscle Weakness In Lower Limbs | A lack of strength of the proximal muscles of the legs. |
| Proximal Muscle Weakness In Upper Limbs | A lack of strength of the proximal muscles of the arms. |
| Thickened Cortex Of Long Bones | Abnormal thickening of the cortex of long bones. |
| Factor X Activation Deficiency | Reduced ability to transform factor X into its activated form factor Xa. |
| Absence Of Pubertal Development | |
| Absence Of Secondary Sex Characteristics | No secondary sexual characteristics are present at puberty. |
| Decreased Circulating Follicle Stimulating Hormone Level | less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis |
| Decreased Circulating Luteinizing Hormone Level | lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary |
| Decreased Fertility | |
| Decreased Serum Testosterone Level | |
| Eunuchoid Habitus | A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). |
| Hypothalamic Gonadotropin-Releasing Hormone Deficiency | |
| Increased Female Libido | |
| Leydig Cell Insensitivity To Gonadotropin | |
| Olfactory Lobe Agenesis | |
| Sparse Pubic Hair | Reduced number or density of pubic hair. |
| Mucosal Erosion | |
| Early Balding | Loss of scalp hair at an earlier than normal age. |
| Prominent Scalp Veins | |
| Underdeveloped Supraorbital Ridges | Flatness of the supraorbital portion of the frontal bones. |
| Unerupted Tooth | The presence of one or more embedded tooth germs which have failed to erupt. |
| Abnormality Of Skin Morphology | Any morphological abnormality of the skin. |
| Abnormality Of The Gastrointestinal Tract | |
| Aplasia/Hypoplasia Of The Skin | |
| Generalized Bone Demineralization | A generalized decrease in bone mineral density. |
| Hemifacial Spasm | A segmental myoclonus of muscles innervated by the facial nerve. |
| Limited Neck Range Of Motion | |
| Osteolysis | Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. |
| Weight Less Than 3Rd Percentile | |
| Transferrin Saturation Measurement | |
| Surfactant Protein D Measurement | |
| Aggregated Erythrocytes | |
| Pregnancy Loss, Recurrent | disease cluster belonging to disease group reproduction |
| Recurrent Spontaneous Abortion | Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. |
| Stage, Pancreatic Cancer | |
| Pelvic Pain | |
| Pelvic Pain Female | |
| Food Allergy | A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. |
| Abnormality Of Copper Homeostasis | An abnormal concentration of copper. |
| Abnormality Of The Intestine | An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. |
| Decreased Serum Ceruloplasmin | A kind of Abnormality of copper homeostasis related to a decreased concentration of ceruloplasmin in the blood. |
| Fried Syndrome | |
| Hypocalciuria | An abnormally decreased calcium concentration in the urine (FMA:12274). |
| Parathormone-Independent Increased Renal Tubular Calcium Reabsorption | An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. |
| Aberrant Melanosome Maturation | |
| Blonde Hair | |
| Fair Hair | A lesser degree of hair pigmentation than would otherwise be expected. |
| Familial Hemophagocytic Lymphocytosis | |
| Urinary Bladder, Underactive | |
| Everted Upper Lip Vermilion | Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. |
| Shyness | Discomfort and partial inhibition of the usual forms of behavior when in the presence of others. |
| Prominent Antihelix | The presence of an abnormally prominent antihelix. |
| Stuttering | An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. |
| Gliosis | The presence of gliosis in the central nervous system. |
| Wide Nasal Ridge | |
| Abnormality Of The Cervical Spine | Any abnormality of the cervical vertebral column. |
| Aberrant Crypt Foci | a neoplastic lesion in which large, thick clusters of abnormal tube-like glands are found in the lining of the colon and rectum; aberrant crypt foci are precursors of colorectal polyps, adenoma and colon cancer |
| Abnormality Of The Musculature | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Absent Fingernail | Absence of a fingernail. |
| Absent Toenail | Congenital absence of the toenail. |
| Adenomatous Colonic Polyposis | Presence of multiple adenomatous polyps in the colon. |
| Breast Cancer | A thoracic cancer that originates in the mammary gland. |
| Cafe-Au-Lait Spots | |
| Crossed Fused Renal Ectopia | A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. |
| Familial Adenomatous Polyposis | An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. |
| Foot Oligodactyly | |
| Gastrointestinal Polyps | |
| Increased Level Of L-Fucose In Urine | |
| Intestinal Hemorrhage Nos | |
| Macronodular Adrenal Hyperplasia | |
| Multiple Unerupted Teeth | |
| Posterior Polar Cataract | OMIM mapping confirmed by DO. [SN]. |
| Renal Hypoplasia/Aplasia | Absence or underdevelopment of the kidney. |
| Subacute Progressive Viral Hepatitis | |
| Synostosis Of Carpal Bones | |
| Ulnar Hypoplasia | |
| Visual Acuity, No Light Perception | |
| Hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
| Micronuclei, Chromosome-Defective | |
| Micronuclei, Genotoxicant-Induced | |
| Ascending Aortic Dilatation | |
| Feeling Despair | |
| Adolescent Overweight | |
| Apolipopropretin A-I Phenotype | |
| Cardiac Death | disease cluster belonging to disease group cardiovascular |
| Childhood Overweight | |
| Determination Of Death | |
| Generalized Amyloid Deposition | A diffuse form of amyloidosis. |
| Infant Overweight | |
| Infantile Obesity | |
| Apolipoprotein A-Iv Polymorphism, Apoa4*1/Apoa4*2 Phenotype | |
| Hyperchylomicronemia | |
| Increased Vldl Cholesterol Concentration | |
| Serum Triglycerides Increased | |
| Apolipoprotein B Assay | |
| Eyelids (Symptom) | |
| Fat Intolerance | |
| Apolipoprotein C-Ii (Wakayama) Phenotype | |
| Apolipoprotein C-Ii Phenotype | |
| Apolipoprotein C-Iii, Nonglycosylated Phenotype | |
| Increased Hdl Cholesterol Concentration | |
| Phosphatidylinositol Measurement | |
| Hypodynamia | |
| Hypokinesia, Antiorthostatic | |
| Abnormality Of Lipid Metabolism | |
| Absent Axillary Hair | Absence of axillary hair. |
| Apoe2 Variant Phenotype | |
| Apoe2-Dunedin Phenotype | |
| Apoe3(-)-Freiburg Phenotype | |
| Apoe4 Variant Phenotype | |
| Apoe4(+) Phenotype | |
| Apoe5 Variant | |
| Apolipoproteins E Measurement (Procedure) | |
| Arterial Fatty Streak | |
| Arthrosclerosis | |
| Atheroma | |
| Carotid Ulcer | |
| Communication Impairment | |
| Daytime Somnolence | |
| Delirium Co-Occurrent With Dementia | |
| Foveal Hypopigmentation | |
| Illusions | |
| Imbalance Of Constituents Of Food Intake | |
| Intensive Care Unit Delirium | |
| Loss Of Memory Ability | |
| Macular Drusen | |
| Mesangial Proliferation | |
| Middle Age Onset | A type of adult onset with onset of symptoms at the age of 40 to 60 years. |
| Parietal Hypometabolism In Fdg Pet | |
| Plaque, Atherosclerotic | |
| Prodromal Period | |
| Prodromal Stage | |
| Prodrome | |
| Pulmonary Infiltrate | |
| Sensory Denervation Disorder | |
| Sleep-Wake Cycle Disturbance | |
| Soft Neurological Signs | |
| Visuospatial Deficit | |
| Antiphospholipid Antibodies Measurement | |
| Lactase Persistence | |
| Nephrotic Syndrome | Xref MGI. |
| Catch - Finding Of Sensory Dimension Of Pain | |
| Amnesia | |
| Brain Hemorrhage | disease cluster belonging to disease group cardiovascular |
| Cerebral Amyloid Angiopathy | An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. |
| Dissociative Amnesia | A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. |
| Global Amnesia | |
| Hysterical Amnesia | |
| Premature Ejaculation | |
| Tactile Amnesia | |
| Temporary Amnesia | |
| Todd Paralysis | |
| Tortuous Cerebral Arteries | Excessive bending, twisting, and winding of a cerebral artery. |
| Axonal Degeneration | |
| Decreased Number Of Large Peripheral Myelinated Nerve Fibers | A reduced number of large myelinated nerve fibers. |
| Multiple System Atrophy | OMIM mapping confirmed by DO. [LS]. |
| Peripheral Axonal Degeneration | Progressive deterioration of peripheral axons. |
| Colton-Null Phenotype | |
| Endotoxic Shock | |
| Equilibration Disorder | |
| Impairment Of Urinary Concentration | |
| Intractable Nausea And Vomiting | |
| Neurological Disability | |
| Visual Phenomena | |
| Abnormal Blistering Of The Skin | The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. |
| Glycerol Quantitative Trait Locus | |
| Absent Facial Hair | Absence of facial hair. |
| Absent Pubic Hair | Absence of pubic hair. |
| Aplasia/Hypoplasia Of The Fallopian Tube | Aplasia or developmental hypoplasia of the fallopian tube. |
| Chronic Back Pain | |
| Craving For Alcohol | |
| Elevated Circulating Follicle Stimulating Hormone Level | |
| Elevated Circulating Luteinizing Hormone Level | |
| Female External Genitalia In Individual With 46,Xy Karyotype | The presence of female external genitalia in a person with a male karyotype. |
| Female Virilization | |
| Gender Dysphoria | |
| Idiopathic Hirsutism | |
| Joint Tenderness | |
| Labial Hypoplasia | |
| Prostate Cancer | A male reproductive organ cancer that is located_in the prostate. |
| Urethral Stenosis | Abnormal narrowing of the urethra. |
| Urinary Symptoms | |
| Uterus Absent (Finding) | |
| Insulin Measurement | |
| Emotional Stress | |
| Mucous Membrane Hyperplasia | |
| Hypercapnia | Abnormally elevated blood carbon dioxide (CO2) level. |
| Intestinal Fistula | An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. |
| Orotic Aciduria | A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. |
| Trisomy 12 | |
| Abnormal Number Of Permanent Teeth | The presence of an altered number of of permanent teeth. |
| Abnormality Of Dental Eruption | An abnormality of tooth eruption. |
| Agenesis | |
| Bilateral Cleft Palate | Nonmidline cleft palate on the left and right sides. |
| Nonsyndromic Cleft Lip With Or Without Cleft Palate | disease cluster belonging to disease group developmental |
| Palate Fistula | |
| Peg-Shaped Maxillary Lateral Incisors | Peg-shaped upper lateral secondary incisor tooth. |
| Speech Articulation Difficulties | Impairment in the physical production of speech sounds. |
| Absence Of Hand | |
| Aplasia Cutis Congenita On Trunk Or Limbs | A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. |
| Aplastic/Hypoplastic Toenail | Absence or underdevelopment of the toenail. |
| Maladjustment | |
| Response To Antineoplastic Agent | |
| Coronary Spastic Angina | |
| Rapidly Progressive | |
| Thin Glomerular Basement Membrane | Reduction in thickness of the basal lamina of the glomerulus of the kidney. |
| Onion Bulb Formation | Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. |
| Flasher - Visual Manifestation | |
| Retinal Defect | |
| Discoid Lateral Meniscus | |
| Prodromal Symptoms | |
| Squamous Intraepithelial Lesion | |
| Eeg With Temporal Focal Spikes | |
| Exaggerated Startle Response | An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. |
| Hyperexplexia | |
| Absent Fifth Fingernail | Absence of nail of little finger. |
| Absent Fifth Toenail | |
| Ectopic Posterior Pituitary | An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. |
| Generalized Hypertrichosis | |
| Macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| Patellar Aplasia | Absence of the patella. |
| Slow-Growing Hair | Hair whose growth is slower than normal. |
| Calcium Level Result | |
| Calcium Measurement | Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation. |
| Delayed Eruption Of Primary Teeth | Delayed tooth eruption affecting the primary dentition. |
| Delayed Fine Motor Development | |
| Dilated Fourth Ventricle | An abnormal dilatation of the fourth cerebral ventricle. |
| Dry Hair | Hair that lacks the lustre (shine or gleam) of normal hair. |
| Dysesthesia | Abnormal sensations with no apparent physical cause that are painful or unpleasant. |
| Facial Hypertrichosis | |
| Long Toe | Digits that appear disproportionately long compared to the foot. |
| Lumbosacral Hirsutism | |
| Prominent Interphalangeal Joints | |
| Prominent Nasal Tip | |
| Short Sternum | Decreased inferosuperior length of the sternum. |
| Abnormal Shape Of The Frontal Region | An abnormal shape of the frontal part of the head. |
| Anterior Pituitary Hypoplasia | Underdevelopment of the anterior pituitary gland. |
| Deep Philtrum | Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. |
| Narrow Palpebral Fissure | |
| Hyperdistention | |
| Normal Kidneys | |
| Handedness | |
| Other Alopecia | |
| Epigastric Pain | |
| Functional Abdominal Pain | |
| Vitreous Floaters | |
| Bardet-Biedl Syndrome | An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
| Kidney Damage | |
| Abnormality Of The Upper Limb | An abnormality of the arm. |
| Asymmetric Growth | A growth pattern that displays an abnormal difference between the left and the right side. |
| Absent Sperm Flagella | |
| Coiled Sperm Flagella | |
| Sperm Tail Anomaly | |
| Tapered Sperm Head | |
| Atelectasis | Collapse of part of a lung associated with absence of inflation (air) of that part. |
| Ectopic Pregnancy | |
| Halitosis | |
| Immotile Cilia | |
| Impaired Nasal Mucociliary Clearance | |
| Prostate Specific Antigen Measurement | A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer. |
| Respiratory Insufficiency Due To Defective Ciliary Clearance | |
| Intermenstrual Heavy Bleeding | |
| Choroidal Vascular Hyperpermeability | |
| Late Insomnia | |
| Progesterone Measurement | |
| Serum Transferrin Measurement | |
| Transferrin Measurement | |
| Decreased Mean Platelet Volume | Average platelet volume below the lower limit of the normal reference interval. |
| Dehydroepiandrosterone Sulfate Measurement (Procedure) | |
| Graft Rejection | |
| Abnormality Of Glycosphingolipid Metabolism | An abnormality of glycosphingolipid metabolism. |
| Acute Flaccid Paralysis | |
| Arylsulfatase A Pseudodeficiency | |
| Decerebrate State | |
| Emergence Delirium | |
| Numbness Of Tongue | |
| Orthostatic Hypotension Due To Autonomic Dysfunction | |
| Progressive Psychomotor Deterioration | |
| Punctate Periventricular T2 Hyperintense Foci | |
| Anterior Wedging Of L2 | An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). |
| Arylsulfatase B Measurement | |
| Aseptic Necrosis | |
| Dermatan Sulfate Excretion In Urine | An increased concentration of dermatan sulfate in the urine. |
| Disproportionate Short-Trunk Short Stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. |
| Flared Iliac Wings | Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. |
| Prominent Sternum | |
| Selenium Measurement | |
| Expressed Emotion | |
| Language Problems | |
| Specific Reading Disorder | |
| Temper Tantrum | |
| Chloride Measurement | |
| Hyperopia | |
| Vestibular Hypofunction | Reduced functioning of the vestibular apparatus. |
| Physical Symptom | |
| Short Nasal Septum | Reduced superior to inferior length of the nasal septum. |
| Hypertension | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
| Multiple Suture Craniosynostosis | Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. |
| Retinal Arteriolar Tortuosity | The presence of an increased number of twists and turns of the retinal arterioles. |
| Absent Thumbnail | |
| Broad Alveolar Ridges | |
| Broad Finger | Increased width of a non-thumb digit of the hand. |
| Broad Phalanx Of The Toes | Increased width of phalanx of toe of one or more toes. |
| Diffuse Cerebral Atrophy | Diffuse unlocalised atrophy affecting the cerebrum. |
| Facial Telangiectasia | Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. |
| Long Upper Lip | Increased width of the upper lip. |
| Overcurvature Of Nail | |
| Uni- And Bilateral Multifocal Epileptiform Discharges | |
| Cherry Red Spot Of The Macula | Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. |
| Degeneration Of Anterior Horn Cells | |
| Hoarse Cry | |
| Keloid Formation | |
| Periarticular Subcutaneous Nodules | Subcutaneous nodules that are located in the vicinity of joints. |
| Glaucomatous Visual Field Defect | |
| Increased Cup-To-Disc Ratio | |
| Abnormality Of Temperature Regulation | An abnormality of temperature homeostasis. |
| Breathing Dysregulation | |
| Central Hypoventilation | |
| Hypoventilation | A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). |
| Cutaneous Allodynia | |
| Schamberg Disease | |
| Skin/Hair/Eye Pigmentation | |
| Alkalosis, Respiratory | |
| Aspartate Aminotransferase Increased | |
| Episodic Ammonia Intoxication | |
| Hyperglutaminemia | An increased concentration of glutamine in the blood. |
| Hypoargininemia | A decreased concentration of arginine in the blood. |
| Protein Avoidance | |
| Aplasia/Hypoplasia Involving The Central Nervous System | Absence or underdevelopment of tissue in the central nervous system. |
| Canavan Disease, Mild | |
| Alanine Measurement | |
| Asparagine Measurement | |
| Blood Phenylalanine Measurement By Guthrie Microbiologic Assay | |
| Glutamine Measurement | |
| Histidine Measurement | |
| Lysine Measurement | |
| Methionine Measurement | |
| Recurrent Abdominal Pain | |
| Serine Measurement | |
| Threonine Measurement | |
| Tryptophan Measurement | |
| Tyrosine Measurement | |
| Early Severe Fetal Akinesia Sequence | |
| Small Cerebral Cortex | Reduced size of the cerebral cortex. |
| Premalignant Lesion | |
| Cortical Malformations | |
| Delayed Peripheral Myelination | Delayed myelination in the peripheral nervous system. |
| Facial Hemangioma | Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. |
| Hematopoetic Myelodysplasia | |
| Hyperconvex Fingernails | When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. |
| Hyperechogenic Pancreas | |
| Mesomelic/Rhizomelic Limb Shortening | |
| Myelodysplasia | |
| Nevus | |
| Small Anterior Fontanelle | Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. |
| Swallowing Problem | |
| Cupped Ears (Finding) | |
| Abnormal Epiglottis Morphology | any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink |
| Abnormality Of Nasopharyngeal Adenoids | |
| Abnormality Of The Tympanic Membrane | |
| Decreased Facial Expression | A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. |
| Gait, Shuffling | |
| Hyperactive Deep Tendon Reflexes | |
| Induced Vaginal Delivery | |
| Long Neck | Increased inferior-superior length of the neck. |
| Multiple Skeletal Anomalies | |
| Prominent Digit Pad | A soft tissue prominence of the ventral aspects of the fingertips or toe tips. |
| Severe Postnatal Growth Retardation | Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. |
| Toenail Dysplasia | An abnormality of the development of the toenails. |
| Absent Foveal Reflex | |
| Color Blindness | A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. |
| Foveal Hypoplasia (Finding) | |
| Granular Macular Appearance | |
| Monochromatopsia | |
| Cancer, Embryonal | |
| Paraparesis, Chronic Progressive | |
| Bilirubin Level Result | |
| Fused Labia Minora | Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. |
| Autoamputation | Spontaneous detachment (amputation) of an appendage from the body. |
| Decreased Vibratory Sense | |
| Degeneration Of The Lateral Corticospinal Tracts | Deterioration of the tissues of the lateral corticospinal tracts. |
| Distal Sensory Impairment Of All Modalities | |
| Hyperesthesia | |
| Neuropsychological Tests | |
| Osteomyelitis Leading To Amputation Due To Slow Healing Fractures | |
| Abnormal Spermatogenesis | Incomplete maturation or aberrant formation of the male gametes. |
| Abnormality Of Chromosome Stability | A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. |
| Decreased Proportion Of Cd4-Positive T Cells | |
| Defective B Cell Differentiation | |
| Elevated Alpha-Fetoprotein | An increased concentration of alpha-fetoprotein. |
| Hypopigmentation Of Hair | |
| Primary Carcinoma | |
| Response To Metformin | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus. |
| Short Telomere Length | |
| Sore Throat | |
| Stage, Cervical Cancer | |
| Atrophy Of The Dentate Nucleus | |
| Drooping Nasal Tip | |
| Impaired Proprioception | A loss or impairment of the sensation of the relative position of parts of the body and joint position. |
| Leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| Hyphema | Bleeding in the anterior chamber of the eye. |
| Retinal Fold (Finding) | |
| Atrio-Oesophageal Fistula | |
| Abnormal Caudate Nucleus Morphology | |
| Abnormality Of Finger | An anomaly of a finger. |
| Apraxia | An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. |
| Expressionless Face | |
| Lingual Dystonia | |
| Oculogyric Crisis | |
| Parkinsonism | Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| Progressive Extrapyramidal Movement Disorder | |
| Stooped Posture | |
| Biting Self | |
| Renal Potassium Wasting | High urine potassium in the presence of hypokalemia. |
| Episodic Hemiplegia | Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. |
| Transient Neurological Symptoms | |
| Transient Unilateral Blurring Of Vision | |
| Cavovarus Deformity Of Foot | |
| Injected Eye | |
| Maternal Seizures | |
| Neurological Decompensation | |
| Stroke | A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).|A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.|Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. |
| Tooth Absent | |
| Dihydrotestosterone Assay | |
| Testosterone Measurement | is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone. |
| Acantholysis | The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. |
| Anal Mucosal Leukoplakia | Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. |
| Palmar Pit | |
| Plantar Pits | The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. |
| Ridged Nails | |
| Skin Vesicle | A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. |
| Subungual Hyperkeratotic Fragments | |
| Mean Corpuscular Hemoglobin Concentration Determination | |
| Hyper-Beta-Alaninemia | |
| Abnormality Of The Subarachnoid Space | Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. |
| Acute Hyperammonemia | An increased concentration of ammonia in the blood with sudden onset. |
| Chronic Lactic Acidosis | A chronic form of lactic acidemia. |
| Decreased Activity Of Mitochondrial Atp Synthase Complex | A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. |
| Echocardiogram Abnormal | |
| Nasogastric Tube Feeding In Infancy | |
| Abnormal Basal Ganglia Mri Signal Intensity | A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. |
| Abnormal Mitral Valve Physiology | |
| Abnormal Speech Prosody | |
| Abnormal Visual Field Test | |
| Abnormality Of Krebs Cycle Metabolism | An abnormality of the tricarboxylic acid cycle. |
| Central Retinal Vessel Vascular Tortuosity | |
| Corticospinal Tract Atrophy | |
| Focal T2 Hyperintense Basal Ganglia Lesion | A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. |
| Irritable Bowel Syndrome With Diarrhea | |
| Lactic Aciduria | |
| Low Plasma Citrulline | A decreased concentration of citrulline in the blood. |
| Mitochondrial Respiratory Chain Defects | |
| Multiple Glomerular Cysts | The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. |
| Retinal Vascular Tortuosity | The presence of an increased number of twists and turns of the retinal blood vessels. |
| Segmental Peripheral Demyelination/Remyelination | A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. |
| Slow Decrease In Visual Acuity | |
| Supraventricular Arrhythmia | A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. |
| Supraventricular Arrhythmia By Ecg Finding | |
| Dilated Third Ventricle | An increase in size of the third ventricle. |
| Dilation Of Lateral Ventricles | |
| Dry Age-Related Macular Degeneration | |
| Hyporeflexia Of Upper Limbs | Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. |
| Abnormal Apolipoprotein Level | anomaly in the amount of the a protein that is frequently a component of a lipoprotein complex |
| Abnormality Of The Intrinsic Pathway | An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. |
| Atrial Septal Dilatation | |
| Brachyonychia | |
| Excessive Skin Wrinkling On Dorsum Of Hands And Fingers | |
| Fragile Nails | Nails that easily break. |
| Fragmented Elastic Fibers In The Dermis | |
| High Nonceruloplasmin-Bound Serum Copper | An increased concentration of non ceruloplasmin bound copper in the blood. |
| Multiple Palmar Creases | The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). |
| Multiple Plantar Creases | |
| Neonatal Wrinkled Skin Of Hands And Feet | |
| Palmoplantar Cutis Laxa | Loose, wrinkled skin of hands and feet. |
| Prominent Nasolabial Fold | Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). |
| Prominent Veins On Trunk | |
| Psychomotor Deterioration | Loss of previously present mental and motor abilities. |
| Recurrent Sinopulmonary Infections | An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. |
| Redundant Neck Skin | Excess skin around the neck, often lying in horizontal folds. |
| Renal Tubular Acidosis | A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. |
| Slender Long Bone | Reduced diameter of a long bone. |
| Slender Long Bones With Narrow Diaphyses | |
| Small, Conical Teeth | |
| Subretinal Pigment Epithelium Hemorrhage | |
| Oval Face | A face with a rounded and slightly elongated outline. |
| Distal Renal Tubular Acidosis Co-Occurrent With Sensorineural Deafness | |
| Enlarged Vestibular Aqueduct | OMIM mapping confirmed by DO. [SN]. |
| Overtubulated Long Bones | Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. |
| Prominent Nasal Septum | |
| Hand Clenching | An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. |
| Narrow Nostrils | |
| Dipstick Assessment Of Hemoglobin Concentration | |
| Finding Of Hemoglobin Concentration | |
| Hemoglobin Concentration Result | |
| Abnormality Of The Face | An abnormality of the face. |
| Abnormality Of The Pubic Bone | An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. |
| Abnormality Of The Sense Of Smell | An anomaly in the ability to perceive and distinguish scents (odors). |
| Absent Tibia | Absence of the tibia. |
| Aplastic Clavicle | |
| Broad Clavicle | |
| Capitate-Hamate Fusion | |
| Down-Sloping Shoulders | Low set, steeply sloping shoulders. |
| Hemolysis (Disorder) | |
| Humerus Varus | |
| Limited Elbow Extension | Limited ability to straighten the arm at the elbow joint. |
| Metaphyseal Spurs | Bony outgrowths that extend laterally from the margin of the metaphysis. |
| Severe Failure To Thrive | |
| Short Clavicle | |
| Tortuous Carotid Artery | |
| Wooly Hair | |
| Poor Motor Coordination | |
| Electrocardiogram Atrioventricular Block Complete Heart Block | |
| Progressive Intervertebral Space Narrowing | |
| Increased Serum Bile Acid Concentration | An increase in the concentration of bile acid in the blood. |
| Post Surgical Diarrhea | |
| Skin Pigmentation | Coloration of the skin. |
| 11 Pairs Of Ribs | Presence of only 11 pairs of ribs. |
| Abnormal Finger Flexion Creases | |
| Absent Earlobe | Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. |
| Cone-Shaped Epiphysis | Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. |
| Ivory Epiphyses | Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. |
| Selective Tooth Agenesis | |
| Abnormality Of The Medulla Oblongata | |
| Systemic Lupus Erythematosus | A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. |
| Abnormal Hemoglobin Finding | |
| Abnormal Pulmonary Valve Cusp Morphology | any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve |
| Absent Frontal Sinuses | Aplasia of frontal sinus. |
| Almond-Shaped Palpebral Fissure | A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. |
| Bilateral Talipes Equinovarus | Bilateral clubfoot deformity (see HP:0001762). |
| Dermatological Manifestations Of Systemic Disorders | |
| Enlarged Epiphyses | Increased size of epiphyses. |
| Episodic Abdominal Pain | An intermittent form of abdominal pain. |
| Equinovarus Deformity Of Foot | |
| Excessive Femoral Anteversion | |
| Failure Of Exfoliation Of Primary Tooth | |
| Generalized Pruritus | |
| Impairment Of Activities Of Daily Living | |
| Increased Serum Serotonin | A increased concentration of serotonin in the blood. |
| Inguinal Cryptorchidism | |
| Lack Of Bowel Sounds | |
| Overjet, Dental | |
| Paroxysmal Bursts Of Laughter | |
| Protrusion Of Tongue | |
| Reduced Alpha/Beta Synthesis Ratio | A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. |
| Shawl Scrotum | Superior margin of the scrotum superior to the base of the penis. |
| Slender Finger | Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. |
| Triangular Nasal Tip | |
| U-Shaped Upper Lip Vermilion | Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. |
| Urgent Desire For Stool | |
| Abnormal Nerve Conduction Velocity | |
| Decreased Amplitude Of Sensory Action Potentials | A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. |
| Dorsal Column Degeneration | |
| Genetic Anticipation With Paternal Anticipation Bias | A type of genetic anticipation observed predominantly upon transmission from affected males. |
| Impaired Horizontal Smooth Pursuit | An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. |
| Inertia | |
| Loss Of Purkinje Cells In The Cerebellar Vermis | |
| Scanning Speech | |
| Abnormal Cell Morphology | any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms |
| Abnormality Of The Spinocerebellar Tracts | An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract (FMA:72642), the anterior spinocerebellar tract (FMA:72642), and the posterior spinocerebellar tract (FMA:72641). |
| Abnormality Of The Substantia Nigra | |
| Amyotrophic Lateral Sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| Beta-2-Microglobulin Measurement | |
| Carrier Status | |
| Cerebellar Purkinje Layer Atrophy | |
| Cystatin C Measurement | |
| Malaise And Fatigue | |
| Olivopontocerebellar Hypoplasia | Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. |
| Spinal Cord Posterior Columns Myelin Loss | |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology | |
| Electrooculogram Abnormal | |
| Facial-Lingual Fasciculations | Fasciculations affecting the tongue muscle and the musculature of the face. |
| Vestibular Dysfunction | An abnormality of the functioning of the vestibular apparatus. |
| Cerebellar Gait Ataxia | |
| Gait Ataxia, Sensory | |
| Macropsia | |
| Micropsia | |
| Cerebellar Vermis Atrophy | Wasting (atrophy) of the vermis of cerebellum. |
| Facial Grimacing | |
| Aneuploidy | chromosome count is not an exact multiple of the haploid number |
| Chromosomal Instability | abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity |
| Colon Cancer | A colorectal cancer that is located_in the colon. |
| Arm Span | |
| Decreased Palmar Creases | Poorly defined or shallow palmar creases. |
| Narrow Palm | For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. |
| Response To Ssri | |
| Sound Sensitivity | |
| Wide Nasal Base | Increased distance between the attachments of the alae nasi to the face. |
| Abnormal Taste | |
| Acute Chest Pain | |
| Cardiovascular Problem | |
| Childhood Aggression | |
| Hypovolemic Shock | |
| Nasal Discomfort | |
| Panic Symptoms | |
| Telescoping Of Limb At Hip | |
| Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against | |
| Alcohol Dependence, Protection Against | |
| Arm Pain | |
| Decreased Circulating Renin Level | An decreased level of renin (PRO:000013883) in the blood. |
| Renal Pain | |
| Serum Creatinine Low | |
| Finger Spasticity | |
| Gastrointestinal Dysmotility | Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. |
| Neoplasms, Second Primary | |
| Osteoarticular Pain | |
| Radial Bowing | A bending or abnormal curvature of the radius. |
| Abnormal Aldolase Level | |
| Aplasia/Hypoplasia Involving The Skeletal Musculature | Absence or underdevelopment of the musculature. |
| Cerebellar Cyst | |
| Cerebellar Dysplasia | The presence of developmental dysplasia of the cerebellum. |
| Advanced Ossification Of Carpal Bones | Ossification of carpal bones at an abnormally early age. |
| Cupped Ribs | Wide, concave rib end. |
| Delayed Proximal Femoral Epiphyseal Ossification | |
| Flared Metaphysis | The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. |
| Flaring Of Rib Cage | The presence of wide, concave anterior rib ends. |
| Short Femoral Neck | An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| Short Iliac Bones | |
| Short Metacarpal | Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. |
| Spondyloepimetaphyseal Dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| Vomiting, Postoperative | |
| Bilateral Elbow Dislocations | |
| Enlarged Metaphyses | Abnormal increase in size of one or more metaphyses. |
| Multiple Joint Dislocations | |
| Small Face | A face that is short (HP:0011219) and narrow (HP:0000275). |
| Spatulate Thumbs | Spoon-shaped, broad thumbs. |
| Abnormal Pulmonary Vein Morphology | any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart |
| Broad Neck | Increased side-to-side width of the neck. |
| Clitoral Hypoplasia | Developmental hypoplasia of the clitoris. |
| Conical Incisor | An abnormal conical morphology of the incisor tooth. |
| Limited Elbow Movement | |
| Microtia, Second Degree | Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. |
| Short Frenulum Of Tongue | |
| Short Metatarsal | Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. |
| Small Labia Majora | |
| Immune Diffusion | |
| Abnormality Of Primary Teeth | Any abnormality of the primary tooth. |
| Flat Forehead | A forehead with abnormal flatness. |
| Palmoplantar Cutis Gyrata | Cutis gyrata of palms and soles. |
| Progeroid Facial Appearance | A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. |
| Slender Toe | Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. |
| Optic Nerve Dysplasia | The presence of developmental dysplasia of the optic nerve. |
| Abnormality Of The Posterior Cranial Fossa | An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. |
| Aplasia/Hypoplasia Of The Tongue | Absence or underdevelopment of the tongue. |
| Chronic Anal Fissure | |
| Hypercholanemia | |
| Sleep Deprivation | |
| Ventricular Hemorrhage | |
| Insulin C-Peptide Measurement | |
| Sex Hormone Binding Globulin Measurement | |
| Benzodiazepine Abuse | |
| Osteolytic Defects Of The Distal Phalanges Of The Hand | |
| Progressive Clavicular Acroosteolysis | Progressive bone resorption in the distal part of the clavicle. |
| Spotty Hyperpigmentation | |
| Abnormal Visual Accommodation | |
| Eye Pain | |
| Renal Carcinoma | A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). |
| Vitreous Hemorrhage | Bleeding within the vitreous compartment of the eye. |
| Abnormality Of The Fallopian Tube | An abnormality of the fallopian tube. |
| Triple-Negative Breast Cancer Finding | |
| Earache | |
| Influenza | A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. |
| Addicted To Cocaine | |
| Abnormality Of The Diencephalon | An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. |
| Atrophy/Degeneration Involving The Corticospinal Tracts | |
| Blue Iris (Physical Finding) | |
| Elfin Facies | This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. |
| Failure To Thrive In Infancy | |
| Hyperacusis | Over-sensitivity to certain frequency ranges of sound. |
| Increased Nuchal Translucency | The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). |
| Open Bite | Visible space between the dental arches in occlusion. |
| Overfriendliness | |
| Periorbital Edema | Edema affecting the region situated around the orbit of the eye. |
| Periorbital Edema, Ctcae | |
| Curved Toe Phalanx | |
| Delayed Social Development | |
| Gastrointestinal Malrotation | |
| Poor Coordination | |
| Megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| Received Therapy Or Drug For | |
| Atopy | |
| Blood Group--Lutheran Null | |
| Hyperleucine-Isoleucinemia | |
| Valinemia | |
| Bche, Fluoride 2 Phenotype | |
| Bche, H Variant Phenotype | |
| Bche, J Variant Phenotype | |
| Fasciculation, Benign | |
| Fasciculation, Skeletal Muscle | |
| Lockjaw | |
| Lower Extremity Paresis | |
| Masseter Muscle Spasm | |
| Monoparesis | |
| Psychological Pseudocyesis | |
| Respiratory Failure Requiring Assisted Ventilation | |
| Suxamethonium Sensitivity | |
| Upper Extremity Paresis | |
| Elevated Plasma Branched Chain Amino Acids | An increased concentration of a branched chain amino acid in the blood. |
| Increased Level Of Hippuric Acid In Urine | |
| Maple Syrup Urine Disease | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
| Abnormality Of The Thyroid Gland | An abnormality of the thyroid gland. |
| Dressing Apraxia | |
| Fetal Hemoglobin Determination | |
| Hemoglobin A2 Measurement | |
| Language Delay | |
| Semantic-Pragmatic Disorder | |
| Decreased Drug Resistance | |
| Delayed Graft Function | |
| Gasping For Breath | |
| In Situ Cancer | |
| Night Sweats | |
| Blushing | |
| Enamel Defects | |
| Tooth Agenesis | A tooth disease characterized by failure to develop on or more missing teeth. |
| Response To Cyclophosphamide | |
| Carotenoids, Plasma Level Of, Quantitative Trait Locus 1 | |
| Interleukin 1 Beta Measurement | |
| Interleukin 18 Measurement | An IL-18 measurement is the quantification of IL-18, typically in blood. |
| Anteverted Ears | |
| Asymmetry Of The Ears | An asymmetriy, i.e., difference in size, shape or position between the left and right ear. |
| Bone Marrow Hypercellularity | |
| Complete Duplication Of Thumb Phalanx | A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism. |
| Eye Manifestations | |
| Flexion Contracture Of The 4Th Toe | |
| Laterally Curved Eyebrow | |
| Long Thorax | Increased inferior to superior extent of the thorax. |
| Metrorrhagia | Bleeding at irregular intervals. |
| Oral Cavity Bleeding | |
| Productive Cough | |
| Lump On Thigh | |
| Abnormal Pattern Of Respiration | An anomaly of the rhythm or depth of breathing. |
| Decreased Mitochondrial Complex Iii Activity In Liver Tissue | Decreased activity of complex II Of the mitochondrion in the liver. |
| Decreased Transferrin Saturation | |
| Elevated Hepatic Iron Concentration | |
| Increased Serum Ferritin | Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. |
| Pili Torti | Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. |
| Serum Iron Raised | |
| Acute Low Back Pain | |
| Ageusia | |
| Chronic Abdominal Pain | |
| Emotional Disturbances | |
| Incisional Pain | |
| Mania Acute | |
| Pain In Spine | |
| Phantosmia | |
| Presbycusis | |
| Rem Sleep Deprivation | |
| Respiratory Abnormalities | |
| Tobacco Addiction, Susceptibility To (Finding) | |
| Gaze-Evoked Horizontal Nystagmus | Horizontal nystagmus made apparent by looking to the right or to the left. |
| Localized Malignant Neoplasm | |
| Abnormality Of Chorioretinal Pigmentation | |
| High Weight | |
| Retinal Arteriolar Constriction | Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. |
| Retinal Arteriolar Occlusion | Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. |
| Retinal Neovascularization | formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina |
| Subretinal Fluid (Finding) | |
| Systremma | |
| Vitelliform-Like Macular Lesions | |
| Hyperemesis | |
| Traumatic Epistaxis | |
| Exacerbation Of Anxiety | |
| Gastrointestinal Dysfunction | |
| Broad Phalanx | Increased side-to-side width of one or more phalanges of the fingers or toes. |
| Contracture Of Elbow | |
| Delayed Ossification Of Carpal Bones | Ossification of carpal bones occurs later than age-adjusted norms. |
| Flat Acetabular Roof | Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. |
| Long Fibula | Disproportionately long fibulae. |
| Long Ulna | Increased length of the ulna. |
| Narrow Pelvis Bone | |
| Posterior Rib Cupping | Wide, concave posterior rib end. |
| Prominent Styloid Process Of Ulna | |
| Radial Deviation Of Hand | |
| Femoral Bowing | Bowing (abnormal curvature) of the femur. |
| Finger Syndactyly | Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as Symphalangism. |
| Popliteal Pterygium | A pterygium (or pterygia) occuring in the popliteal region (the back of the knee). |
| Proximal/Middle Symphalangism Of 5Th Finger | Fusion of the proximal and middle phalanges of the 5th finger. |
| Symphalangism Affecting The Phalanges Of The Hallux | |
| Typical Absence Seizures | |
| Long Sleeper Syndrome | |
| Sleep-Related Neurogenic Tachypnea | |
| Subwakefullness Syndrome | |
| Serum Selenium Measurement | |
| Hyperechogenic Kidneys | An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. |
| Response To Simvastatin | |
| Extremity Muscle Atrophy, Lower | |
| Hand Muscle Weakness | Reduced strength of the musculature of the hand. |
| Opioid-Induced Constipation | |
| Abnormality Of The Foot Musculature | An anomaly of the musculature of foot. |
| Muscle Fibrillation | Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. |
| Sensitization (Disorder) | |
| Phosphatidylcholine Measurement | |
| Chromosome Breakage | Regulated cleavage of the developing macronuclear genome at a limited number of chromosome breakage sites (CBS). The macronuclear destined segment (MDS) sequence adjacent to the CBS (or separated from it by a BES) receives a macronuclear telomere following chromosome breakage. |
| Facial Telangiectasia In Butterfly Midface Distribution | Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. |
| Menorrhagia | Excessive uterine bleeding during MENSTRUATION. |
| Other Emphysema | |
| Green Urine | |
| Aplasia/Hypoplasia Of The Uterus | Absence or developmental hypoplasia of the uterus. |
| Increased Circulating Gonadotropin Level | greater than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis |
| Low Serum Estradiol Levels | |
| Continuous Electrocardiogram - Paroxysmal Supraventricular Tachycardia | |
| Medially Deviated Second Toe | Medial deviation of the second toe. |
| Osteochondral Defects | |
| Radial Deviation Of The 2Nd Finger | Displacement of the 2nd finger towards the radial side. |
| Short 2Nd Finger | Hypoplasia of the second finger, also known as the index finger. |
| Short 2Nd Metacarpal | |
| Short 5Th Metacarpal | Short fifth metacarpal bone. |
| Short Middle Phalanx | |
| Abnormality Of Digit | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Heberden Node | |
| Inferior Vermis Hypoplasia | Underdevelopment of the inferior portion of the vermis of cerebellum. |
| Small Scrotum | Apparently small scrotum for age. |
| Absence Of Rib | |
| Absent In Utero Ossification Of Vertebral Bodies | |
| Absent In Utero Rib Ossification | Lack of formation and mineralization of the ribs in utero. |
| Absent Or Minimally Ossified Vertebral Bodies | |
| Lumbosacral Meningocele | |
| Nephroblastomatosis | Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. |
| Protuberant Abdomen | A thrusting or bulging out of the abdomen. |
| Unossified Sacrum | |
| Anomalous Atrioventricular Excitation | |
| Chromosome 10Q23 Deletion Syndrome | |
| Freckled Genitalia | |
| Midclavicular Hypoplasia | Underdevelopment of the middle portion of the clavicle. |
| Aplasia Of The Proximal Phalanges Of The Hand | |
| Aplasia/Hypoplasia Involving The Metacarpal Bones | Aplasia or Hypoplasia affecting the metacarpal bones. |
| Aplasia/Hypoplasia Of The 1St Metacarpal | Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). |
| Narrow Nasal Bridge | Decreased width of the bony bridge of the nose. |
| Short Proximal Phalanx | |
| Terminal Symphalangism Of Hands | |
| Widened Proximal Tibial Metaphyses | |
| Elevated Right Atrial Pressure | |
| Increased Pulmonary Vascular Resistance | |
| Pulmonary Artery Vasoconstriction | |
| Pulmonary Venous Occlusion | |
| Raised Jugular Venous Pressure | |
| Velopharyngeal Dysfunction | |
| Decreased Activity Of Mitochondrial Respiratory Chain | Decreased activity of the mitochondrial respiratory chain. |
| Abnormal Aggressive, Impulsive Or Violent Behavior | |
| Abnormality Of Mouth Size | |
| Broad Lateral Eyebrow | |
| Cyst Of Pineal Gland | |
| Hemihypotrophy Of Lower Limb | Shortening of a leg affecting only one side. |
| Impaired Visuospatial Constructive Cognition | |
| Lack Of Subcutaneous Fatty Tissue | |
| Premature Eruption Of Permanent Teeth | Premature tooth eruption of the permanent dentition. |
| Progressive Conductive Hearing Impairment | A progressive type of conductive deafness. |
| Abnormality Of The Frontal Bone | |
| Abnormality Of The Nasal Bone | An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. |
| Absent Eyelashes | Lack of eyelashes. |
| Anterior Creases Of Earlobe | Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. |
| Curly Hair (Finding) | |
| Diminished Sweating | |
| Dystrophic Fingernails | The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. |
| Finger Joint Hypermobility | |
| Flared Nostrils Abnormality | |
| Functional Abnormality Of The Gastrointestinal Tract | Abnormal functionality of the gastrointestinal tract. |
| Hyperextensibility Of The Finger Joints | The ability of the finger joints to move beyond their normal range of motion. |
| Hypomelanotic Macule | |
| Impaired Oropharyngeal Swallow Response | |
| Increased Anterioposterior Diameter Of Thorax | |
| Intracranial Cystic Lesion | A cystic lesion originating within the brain. |
| Neoplasms, Radiation-Induced | |
| Numerous Nevi | |
| Oral Manifestations | |
| Pectus Excavatum | A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance. |
| Postnatal Onset Growth Deficiency | |
| Progressive Visual Field Defects | |
| Reduced Factor Xiii Activity | Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. |
| Shield Chest | A broad chest. |
| Sparse Or Absent Eyelashes | |
| Superior Pectus Carinatum | Pectus carinatum affecting primarily the superior part of the sternum. |
| Tongue Thrusting | |
| Tongue Thrusting When Swallowing, Abnormal Persistence Beyond Early Childhood | |
| Folic Acid Measurement | |
| Multifocal Seizures | |
| Truncal Titubation | |
| Abscess Of Peritoneum | |
| Absent Testes | absence of the male reproductive glands containing the germ cells |
| Adult Only | |
| Aplasia/Hypoplasia Of Fingers | Small/hypoplastic or absent/aplastic fingers. |
| Aplasia/Hypoplasia Of The Uvula | Underdevelopment or absence of the uvula. |
| Chromosome Breaks | |
| Chronic Fatigue | Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. |
| Climacteric Discomfort | |
| Emotional Problems | |
| Functional Intestinal Obstruction | |
| Increased Risk Of Pancreatic Cancer | |
| Ovarian Cancer | A female reproductive organ cancer that is located_in the ovary. |
| Pancreatic Cancer | An endocrine gland cancer located_in the pancreas. |
| Abnormality Of Radial Ray | |
| Chromosomal Breakage Induced By Crosslinking Agents | Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. |
| Heterotopic Ossification | |
| Cryptogenic Sexual Precocity | |
| Irregular Bleeding | |
| Abnormality Of The Mediastinum | |
| Prominent Incisors | |
| Laryngeal Obstruction | |
| Abnormal Motor Nerve Conduction Velocity | |
| Caudate Atrophy | |
| Cold-Induced Hand Cramps | |
| First Dorsal Interossei Muscle Atrophy | |
| First Dorsal Interossei Muscle Weakness | |
| Progressive Encephalopathy | |
| Thenar Muscle Atrophy | |
| Thenar Muscle Weakness | |
| Fetal Polyuria | Abnormally increased production of urine by the fetus resulting in polyhydramnios. |
| Global Glomerulosclerosis | Complete and diffuse scarring of glomerulus. |
| Hyperchloriduria | |
| Increased Urinary Potassium | An increased concentration of potassium(1+) in the urine. |
| Reduced Renal Corticomedullary Differentiation | Reduced differentiation between renal cortex and medulla on diagnostic imaging. |
| Renal Salt Wasting | A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). |
| Serum Chloride Level Decreased (Finding) | |
| Delayed Emergence From Anesthesia | |
| Postoperative Residual Curarization | |
| Digestive System Fistula | |
| Duodenal Fistula | |
| Decreased Biotinidase Activity | |
| Diffuse Cerebellar Atrophy | Diffuse unlocalised atrophy affecting the cerebellum. |
| Laryngismus Stridulus | |
| Metabolic Ketosis | |
| Organic Aciduria | |
| Carcinoma, Diffuse Type | |
| Lymph Node Hypoplasia | Underdevelopment of the lymph nodes. |
| Panhypogammaglobulinemia | |
| Recurrent Cutaneous Abscess Formation | An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. |
| Recurrent Enteroviral Infections | Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. |
| Abnormal Cardiac Ventricular Function | |
| Abnormal Liver Parenchyma Morphology | |
| Abnormal Reproductive System Morphology | |
| Abnormality Of The Nasal Mucosa | |
| Anti-Cyclic Citrullinated Peptide Antibody | |
| Anti-Cyclic Citrullinated Peptide Antibody Level | |
| Enlarged Lacrimal Glands | |
| Increased T Cell Count | |
| Sarcoidosis | A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. |
| Warburton Anyane Yeboa Syndrome | |
| Cerebral Hypoplasia | Underdevelopment of the cerebrum. |
| Chromosomal Mosaicism Due To Mitotic Instability | |
| Hypodysplasia Of The Corpus Callosum | |
| Premature Chromatid Separation | The presence of premature sister chromatid segregation. |
| Triangular Mouth | The presence of a triangular form of the mouth. |
| Decreased Sensory Nerve Conduction Velocity | Reduced speed of conduction of the action potential along a sensory nerve. |
| Tibialis Muscle Weakness | |
| Poikilocytosis | The presence of abnormally shaped erythrocytes. |
| Hemolytic Uremic Syndrome | |
| Tn Polyagglutination Syndrome, Somatic | |
| Antineutrophil Antibody Positivity | The presence of autoantibodies in the serum that react against neutrophils. |
| Butterfly Rash | |
| Decreased Serum Complement C3 | |
| Decreased Serum Complement C4 | |
| Decreased Serum Complement Factor I | |
| Disturbance Of Consciousness | |
| Lupus Anticoagulant -- Finding | |
| Lupus Anticoagulant Measurement | |
| Urine Looks Dark | |
| Retrograde Degeneration | |
| Sub-Rpe Deposits | |
| Alveolar Bone Loss Around Teeth | |
| Atrophy Of Alveolar Ridges | |
| Premature Tooth Loss | |
| Abnormality Of Complement System | An abnormality of the complement system. |
| Cardiac Troponin T Measurement | Is a quatification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction. |
| Hamartoma | A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. |
| Muscle Hypertrophy | The muscle system process that results in enlargement or overgrowth of all or part of a muscle organ due to an increase in the size of its muscle cells. Physiological hypertrophy is a normal process during development (it stops in cardiac muscle after adolescence) and can also be brought on in response to demand. In athletes cardiac and skeletal muscles undergo hypertrophy stimulated by increasing muscle activity on exercise. Smooth muscle cells in the uterus undergo hypertrophy during pregnancy. |
| Complement Deficiency | A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. |
| Purpura Hemorrhagica | |
| Purpura, Nonthrombocytopenic | |
| Rheumatoid Purpura | |
| Vasculitis, Hemorrhagic | |
| Abnormal Myocardium Morphology | |
| Immunologic Hypersensitivity | |
| Airway Constriction | |
| Recurrent Meningococcal Disease | Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. |
| C8 Deficiency | |
| Recurrent Neisserial Infections | Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). |
| Beaten Bronze Macular Sheen | |
| Hyperautofluorescent Macular Lesion | |
| Reduced Amplitude Of Dark-Adapted Bright Flash Electroretinogram A-Wave | |
| Decreased Serum Complement C9 | |
| Abnormal Mitochondrial Morphology | Any structural anomaly of the mitochondria. |
| Eeg With Continuous Slow Activity | |
| Hyperorality | A tendency or compulsion to examine objects by mouth. |
| Inappropriate Behavior | |
| Neuronal Loss In The Cerebral Cortex | |
| Restrictive Behavior | Behavior characterized by an abnormal limitation to few interests and activities. |
| Spoken Word Recognition Deficit | |
| Upper Motor Neuron Dysfunction | |
| Visual Agnosia | An agnosia that is a loss of the ability to visually recognize objects. |
| Carbonic Anhydrase Defciency | |
| Serum Zinc Measurement | |
| Isolated Hyperchlorhidrosis | |
| Basal Ganglia Calcification | A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. |
| Compression Of Optic Nerve | |
| Cranial Hyperostosis | Excessive growth of the bones of cranium, i.e., of the skull. |
| Diaphyseal Sclerosis | An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| Elevated Serum Acid Phosphatase | Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. |
| Electronegative Electroretinogram | |
| Benign Paroxysmal Torticollis Of Infancy | |
| Head Movements Abnormal | |
| Learning Difficulties | |
| Myotonia | An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. |
| Prolonged Electroretinal Response Suppression | |
| Staggering Gait | |
| Titubation | Nodding movement of the head or body. |
| Vertigo, Paroxysmal | |
| Electrocardiogram J Wave | |
| J Wave | The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. |
| Lack Of Spontaneous Play | |
| Slowed Horizontal Saccades | An abnormally slow velocity of horizontal saccadic eye movements. |
| Taste Sour | |
| Ventricular Arrhythmia | |
| Auriculo-Ventricular Dissociation | |
| Av Block Second Degree By Ecg Finding | |
| Abnormal Light- And Dark-Adapted Electroretinogram | |
| Reduced Brain N-Acetyl Aspartate Level By Mrs | |
| Eeg With Spike-Wave Complexes (2.5-3.5 Hz) | |
| Epilepsy | A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures |
| Jerky Head Movements | |
| Limb Myoclonus | |
| Low Self-Esteem | |
| Renin Decreased | |
| Uncontrolled Eye Movements | |
| Abnormality Of Masseter Muscle | |
| Acute Rhabdomyolysis | An acute form of rhabdomyolysis. |
| Cardiomyocyte Mitochondrial Proliferation | |
| Episodic Flaccid Weakness | Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. |
| Episodic Hypokalemia | |
| Generalized Morning Stiffness | A sensation of stiffness in the joints that occurs following waking up in the morning. |
| Hyperkalemia, Diminished Renal Excretion | |
| Intermittent Painful Muscle Spasms | |
| Late-Onset Proximal Muscle Weakness | Lack of strength of the proximal musculature occuring late in the clinical course. |
| Malignant Hyperthermia, Susceptibility To, 5 | |
| Respiratory Depression | |
| Shortened Pr Interval | Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. |
| Transient Hypophosphatemia | |
| Ectopic Rhythm | |
| Nodal Rhythm Disorder | |
| Other Specified Cardiac Arrhythmias | |
| Generalized Tonic-Clonic Seizures On Awakening | |
| Morning Myoclonic Jerks | |
| Optic Atrophy | Xref MGI. |
| Abnormal Glycosylation | An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. |
| Anisopoikilocytosis | A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. |
| Chest Pain On Exertion | |
| Sulfate Measurement | |
| Exercise-Induced Angina | |
| Mal De Debarquement | |
| Pain During Injection | |
| Aggressive Reaction | |
| Bone Mineral Density Quantitative Trait | |
| Epimacular Membrane | |
| Malignant Bowel Obstruction | |
| Urinary Calculi | |
| Abnormal Platelet Morphology | An anomaly in platelet form, ultrastructure, or intracellular organelles. |
| Carcinoid Syndrome Diarrhea | |
| Increased Megakaryocyte Count | Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. |
| Low Grade Fever | |
| Nightmares | |
| Streptococcal Toxic Shock Syndrome | |
| Respiratory Quotient | |
| Abnormal Emotion/Affect Behavior | An abnormality of emotional behaviour. |
| P Wave Duration (Observable Entity) | |
| Involuntary Movements | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Memory, Episodic | |
| Segmental Myoclonic Seizures | |
| Short Ear | Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. |
| Abnormal Eyelash Morphology | |
| Advanced Tarsal Ossification | Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. |
| Bifid Distal Phalanx Of The Thumb | Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. |
| Flattened Epiphysis | Abnormal flatness (decreased height) of epiphyses. |
| Medial Deviation Of The Foot | |
| Pain Of Skin | |
| Partial Duplication Of The Distal Phalanx Of The Hallux | |
| Phalangeal Dislocation | |
| Proximal Fibular Overgrowth | Overgrowth of the proximal part of the fibula. |
| Radioulnar Dislocation | |
| Small Epiphyses | Reduction in the size or volume of epiphyses. |
| Functional Abnormality Of The Bladder | Dysfunction of the urinary bladder. |
| Impaired Distal Vibration Sensation | A decrease in the ability to perceive vibration in the distal portions of the limbs. |
| Limb Dysmetria | A type of dysmetria involving the limbs. |
| Spondylolisthesis At L5-S1 | |
| Weakness Due To Upper Motor Neuron Dysfunction | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |
| Polycystic Ovary Syndrome | A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. |
| Interleukin 12 Measurement | |
| Interleukin 13 Measurement | |
| Vascular Endothelial Growth Factor Measurement | |
| Abdominal Wall Muscle Weakness | Decreased strength of the abdominal musculature. |
| Absent Muscle Fiber Calpain-3 | |
| Proximal Lower Limb Amyotrophy | Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. |
| Scapular Muscle Atrophy | Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. |
| Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy | |
| Lichenification | Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. |
| Lichenification And Lichen Simplex Chronicus | |
| Peeling Of Skin | |
| Trembling | |
| Serum Iron Low (Finding) | |
| Iron Binding Capacity Total Measurement | |
| Serum Iron Measurement | |
| Total Iron Binding Capacity Function | |
| Decreased Activity Of Mitochondrial Complex Iii | A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. |
| Decreased Activity Of Mitochondrial Complex Iv | A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. |
| Eeg With Periodic Lateralized Epileptiform Discharges | |
| Fg Syndrome | An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. |
| Heinz Body Observation | |
| Heinz-Ehrlich Body Measurement | |
| Abnormal Proportion Of Cd4 T Cells | |
| Abnormal Proportion Of Cd8 T Cells | |
| Abnormal Serum Interleukin Level | |
| Abnormal Vitamin B12 Level | any anomaly in the concentration of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom |
| Decreased Lymphocyte Apoptosis | |
| Elevated Proportion Of Cd4-Negative, Cd8-Negative, Alpha-Beta Regulatory T Cells | |
| Follicular Hyperplasia | Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. |
| Increased B Cell Count | |
| Increased Proportion Of Hla Dr+ T Cells | |
| Platelet Antibody Positive | The presence in the serum of autoantibodies directed against thrombocytes. |
| Reduced Delayed Hypersensitivity | Decreased ability to react to a delayed hypersensitivity skin test. |
| Rheumatoid Factor Positive (Finding) | |
| Smooth Muscle Antibodies Positive | |
| Specific Anti-Polysaccharide Antibody Deficiency | The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. |
| White Scaling Skin | |
| Meningitic Respiration | |
| Muscle Tenderness | |
| Skeletal Muscle Tender | |
| Decreased T Cell Activation | |
| Defective B Cell Activation | |
| Heart Function Tests | |
| Wolff-Parkinson-White Syndrome | A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. |
| Elevated Circulating Parathyroid Hormone Level | |
| Feeding Intolerance | |
| Hypermagnesiuria | An increased concentration of magnesium the urine. |
| Pancreatic Calcification | The presence of abnormal calcium deposition lesions in the pancreas. |
| Serum Calcium Increased | |
| Leukonychia | White discoloration of the nails. |
| Parental Alcoholism | |
| Acute Cough | |
| Catalase Measurement | |
| Claustrophobia | |
| Dyskinesia, Medication-Induced | |
| Prostatism | |
| Reduced Catalase Activity | An abnormally decreased amount of catalase activity. |
| Nonmotile Sperm | A lack of mobility of ejaculated sperm. |
| Abnormal Bowel Sounds | |
| Absence Of Subcutaneous Fat | Lack of subcutaneous adipose tissue. |
| Decreased Adipose Tissue Around Neck | Reduced amount of adipose tissue in the region of the neck. |
| Elevated Pulmonary Artery Pressure | An abnormally elevated blood pressure in the circulation of the pulmonary artery. |
| Lack Of Facial Subcutaneous Fat | |
| Wound, Non-Healed | |
| Abnormal Muscle Fiber Protein Expression | |
| Calf Muscle Hypoplasia | Underdevelopment of the muscuklature of the calf. |
| Exercise-Induced Muscle Cramps | Sudden and involuntary contractions of one or more muscles brought on by physical exertion. |
| Exercise-Induced Muscle Stiffness | A type of muscle stiffness that occurs following physical exertion. |
| Hyperirritability | |
| Intrinsic Hand Muscle Atrophy | |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase | |
| Muscle Hyperirritability | |
| Muscle Mounding | Transient swelling of muscle induced by percussion. |
| Percussion-Induced Rapid Rolling Muscle Contractions | |
| Progressive Distal Muscle Weakness | Progressively reduced strength of the distal musculature. |
| Fetal Hydrops (In Some Patients) | |
| Absence Of Intrinsic Factor | Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. |
| Megaloblastic Erythroid Hyperplasia | |
| Normal Bowel Habits | |
| Clubbing Of Nail | |
| Methioninuria | |
| Incomprehensible Speech | |
| Intrahepatic Biliary Atresia | |
| Wallerian Degeneration | |
| Pericardial Lymphangiectasia | |
| Pleural Lymphangiectasia | |
| Thyroid Lymphangiectasia | The presence of lymphangiectasis of the thyroid gland. |
| Absent Inner And Outer Dynein Arms | Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. |
| Dynein Arm Defect Of Respiratory Motile Cilia | An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. |
| Absent Outer Dynein Arms | Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. |
| Rhinorrhea, Ctcae | |
| Copper Accumulation In Liver | |
| Elevated Alkaline Phosphatase Of Bone Origin | An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. |
| Prognosis Bad | |
| Adrenal Hypoplasia | Developmental hypoplasia of the adrenal glands. |
| Aplasia/Hypoplasia Of The Nipples | |
| Platelet Aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| Absent Inner Dynein Arms | Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. |
| Bilateral Coxa Valga | The presence of bilateral coxa_valga. |
| Anomalous Origin Of Coronary Artery From The Pulmonary Artery | |
| Horizontal Ribs | A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. |
| Increased Vertebral Height | Increased top to bottom height of vertebral bodies. |
| Infanctile Encephalopathy | |
| Functional Motor Deficit | |
| Pontocerebellar Atrophy | Atrophy affecting the pons and the cerebellum. |
| Feeling Sick | |
| Multiple Chemical Sensitivity | A syndrome that is an adverse physical reaction to low levels of many common chemicals. |
| Allergic Symptom | |
| Granuloma, Respiratory Tract | |
| Immediate Hypersensitivity | |
| Mannerism | |
| Pemphigoid Gestationis | |
| Respiratory Hypersensitivity | |
| Injection Site Pain | |
| Arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| Skin Symptom | |
| Asymmetry Of Spinal Facet Joints | |
| Burn Shock | |
| Melalgia | |
| Premature Obstetric Labor | |
| Tissue Adhesions | |
| Focal T2 Hypointense Brainstem Lesion | |
| Spinal Cord Lesion | |
| Floppy | |
| Airway Remodeling | |
| Decreased Cervical Spine Mobility | |
| Enlarged Interphalangeal Joints | |
| Enlarged Metacarpophalangeal Joints | |
| Enlargement Of The Proximal Femoral Epiphysis | An abnormal enlargement of the proximal epiphysis of the femur. |
| Sclerotic Vertebral Endplates | Sclerosis (increased density) affecting vertebral end plates. |
| Abnormality Of Vitamin B12 Metabolism | |
| Genomic Instability | |
| Giant Cell Granuloma | |
| Multiple Myeloma, T(11;14) Type, Susceptibility To | |
| Von Hippel-Lindau Syndrome | |
| Anal Stenosis, Ctcae | |
| Toeing-In | |
| Arterial Injury, Ctcae | |
| Charmed | |
| Granuloma | |
| Postoperative Adhesion | |
| Beta Globulin Measurement | |
| Acral Ulceration | |
| Myocardial Infarction, Susceptibility To | |
| Cephalhematoma Due To Birth Trauma | |
| Cephalohematoma | |
| Coccidioidal Granuloma | |
| Epigastric Burning | |
| Reduced Beta/Alpha Synthesis Ratio | A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. |
| Posterior Pharyngeal Cleft | |
| Cystic Echinococcosis | An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. |
| Atrophic Endometrium | |
| Decreased Lymphocyte Proliferation In Response To Mitogen | |
| Decreased Proportion Of Cd3-Positive T Cells | |
| Failure To Thrive Secondary To Recurrent Infections | |
| Recurrent Abscess Formation | An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. |
| Recurrent Candida Infections | An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. |
| Persistent Ebv Viremia | |
| Dysbacteriosis | |
| Portal Cirrhosis | |
| Residual Cancer | |
| Abnormal Immunoglobulin Level | An abnormal deviation from normal levels of immunoglobulins in blood. |
| Altitude Sickness | |
| Focal Segmental Glomerulosclerosis | A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. |
| Fibrinogen Activity | |
| Fibrinogen, Ctcae | |
| Decreased Reticulin | |
| Coronary Artery Disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
| House Dust Mite Allergy | |
| Amotivation | |
| Beevor'S Sign | |
| Cystic Dermoid Choristoma | |
| Intermittent Pain | |
| Localized Pain | |
| Pelvic Obliquity | |
| Prolapsed Thoracic Intervertebral Disc | |
| Upper Abdominal Pain | |
| Recurrent Gastroenteritis | |
| Decreased Proportion Of Cd8-Positive T Cells | |
| Abnormality Of T Cells | An abnormality of T cells. |
| Impaired Memory B Cell Generation | |
| Indirect Contact Transmission Infection | |
| Incoherent Thinking | |
| Generalized Edema, Ctcae | |
| Mch - Low | |
| Cromer Blood Group System, Dr(A-) Phenotype | |
| Soft Tissue Mass | |
| Brain Stem Herniation | |
| Aquagenic Pruritus | |
| Agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| Stage, Bladder Cancer | |
| Absence Of Cd8-Positive T Cells | |
| Fused Sternal Ossification Centers | |
| Midline Facial Capillary Hemangioma | |
| Renal Cortical Cysts | Cysts of the cortex of the kidney. |
| Thick Anterior Alveolar Ridges | |
| Endopolyploidy On Chromosome Studies Of Bone Marrow | An increase in the number of chromosome sets per cell in bone marrow cells. |
| Reduced Activity Of N-Acetylglucosaminyltransferase Ii | An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. |
| Residual Pain | |
| Eversion Of Lateral Third Of Lower Eyelids | |
| Nasal Flaring | |
| Sleep Onset Latency | |
| Coronal Synostosis | |
| Microtia, Third Degree | |
| Irregular Femoral Epiphysis | |
| Hypercalcemia | |
| Jaw Pain | |
| Mandibular Pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. |
| Renal Hamartoma | A disordered proliferation of mature tissues that are native to the kidneys. |
| Tumor Cell Mobility | |
| Neoplasm Seeding | |
| Abnormality Of The Sella Turcica | Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. |
| Abnormality Of The Shape Of The Midface | |
| Absent External Genitalia | Lack of external genitalia in a male or female individual. |
| Absent Nipple (Finding) | |
| Advanced Pneumatization Of The Mastoid Process | |
| Attached Earlobe | |
| Hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| Large Earlobe | Increased volume of the earlobe, that is, abnormally prominent ear lobules. |
| Multiple Impacted Teeth | The presence of multiple impacted teeth. |
| Periorbital Wrinkles | |
| Thoracolumbar Kyphoscoliosis | |
| Euthyroid Hyperthyroxinemia | An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. |
| Raised Tsh Level | |
| No-Reflow Phenomenon | |
| Slow-Flow Phenomenon | |
| Small Head | |
| Absent Proximal Finger Flexion Creases | Absence of the proximal interphalangeal flexion creases of the fingers. |
| Absent/Hypoplastic Coccyx | |
| Intolerant Of Heat | |
| Prominent Coccyx | |
| Skin Dimple | |
| Estrone Measurement | |
| Corneal Calcification | |
| Atypical Nevi In Non-Sun Exposed Areas | |
| Developmental Stagnation At Onset Of Seizures | A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. |
| Eeg With Generalized Slow Activity | Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| Confetti-Like Hypopigmented Macules | |
| Fasting Hyperinsulinemia | An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. |
| Increased Glucagon Level | |
| Increased Urinary Cortisol Level | Abnormally increased concentration of cortisol in the urine. |
| Adrenal Hypoplasia, Cytomegalic Type | |
| Adrenocortical Cytomegaly | The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. |
| Inspiration Function | |
| Mirage Syndrome | |
| Overgrowth Of External Genitalia | |
| Pancreatic Hyperplasia | Hyperplasia of the pancreas. |
| Posterior Helix Pit | |
| Partial Monosomy | |
| Redness Of Eye | |
| Midnasal Stenosis | Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. |
| Flaccid Paralysis | |
| Hooked Clavicle | |
| Sensorineural Hearing Loss, Progressive Bilateral Postlingual | |
| Intracranial Epidermoid Cyst | |
| Hyposegmentation Of Neutrophil Nuclei | |
| Impaired Neutrophil Bactericidal Activity | A reduction in the ability of neutrophils to kill bacteria. |
| Abnormality Of Exocrine Pancreas Physiology | A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. |
| Pleuritic Pain | |
| Wrinkled Face | |
| Circling Behavior | |
| Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 | |
| Uterine Dysfunction | |
| Globus Hystericus | |
| Steep Acetabular Roof | An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance. |
| Aplasia/Hypoplasia Of The Lungs | |
| Dysplastic Aortic Valve | |
| Abnormality Of Peripheral Nerve Conduction | An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). |
| Autism | A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old. |
| Impaired Renal Concentrating Ability | A defect in the ability to concentrate the urine. |
| Neonatal Death | Death within the first 28 days of life. |
| Retinal Pigmentary Degeneration | |
| Thickening Of Glomerular Basement Membrane | |
| Tubular Atrophy | The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. |
| Tubular Atrophy Assessment | |
| Finding Of Creatinine Level | |
| Severe Photosensitivity | A severe degree of photosensitivity of the skin. |
| Left Ventricular Mass | disease cluster belonging to disease group cardiovascular |
| Drug Metabolism, Altered, Ces1-Related | |
| Cholesterol Measurement Test | |
| Cholesteryl Ester Transfer Protein Measurement | |
| Proximal Femoral Metaphyseal Irregularity | Irregularity of the normally smooth surface of the proximal metaphysis of the femur. |
| Short Sperm Flagella | |
| Microcephalic Sperm Head | |
| Decreased Serum Complement Factor B | |
| Decreased Serum Complement Factor H | |
| Depletion Of Components Of The Alternative Complement Pathway | |
| Glomerular Subendothelial Electron-Dense Deposits | |
| Hemopexin Measurement | |
| Matrix Metalloproteinase 8 Measurement | |
| Frank Hematuria | |
| Recurrent Haemophilus Influenzae Infections | Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. |
| Recurrent Streptococcus Pneumoniae Infections | Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. |
| Scarred Macula | |
| Anterior Knee Pain | |
| Dysfunctional Alternative Complement Pathway | |
| Hypomenorrhea | |
| Abnormal Pancreatic Duct Morphology | any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum |
| Bilateral Carcinoma | |
| Bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. |
| Elevated Sweat Chloride | An increased concentration of chloride in the sweat. |
| Gastrointestinal Cramps | |
| Hypertrypsinemia, Neonatal, Susceptibility To | |
| Pancreatic Symptom | |
| Pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| Pulmonary Embolism With Pulmonary Infarction | |
| Recurrent Bronchopulmonary Infections | An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. |
| Vas Deferens, Congenital Bilarteral, Absence Of | |
| Watery Diarrhoea | |
| Pregnancy, Tubal | |
| Grandiose Delusions | |
| Colon (Non-Specific) Polyp Hyperplastic | |
| Decreased Activity Of The Pyruvate Dehydrogenase Complex | |
| Generalized Hypotonia Due To Defect At The Neuromuscular Junction | |
| Increased Mitochondrial Number | |
| Dermal Translucency | An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. |
| Eeg With Abnormally Slow Frequencies | EEG with abnormally slow frequencies. |
| Eeg With Focal Sharp Slow Waves | |
| Eeg With Spike-Wave Complexes (>3.5 Hz) | The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). |
| Gatad2B Associated Neurodevelopmental Disorder | |
| Choanal Atresia | OMIM mapping confirmed by DO. [SN]. |
| Mild Hearing Impairment | The presence of a mild form of hearing impairment. |
| Severe Hearing Loss | |
| Polyploidy | |
| Breast And Colorectal Cancer, Susceptibility To | |
| Cancer Of Multiple Types, Susceptibility To | |
| Asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| Proximal Weakness | |
| Orthostatic Tremor | |
| Frontal Release Signs | Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. |
| Globe Retraction And Deviation On Adduction | |
| Patchy Hypopigmentation Of Hair | Reduced pigmentation of hair in patches. |
| Pupillary Abnormality | |
| Limited Extraocular Movements | |
| Arrest Of Spermatogenesis | block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa |
| Opioid Overdose | |
| Deep Anterior Chamber Of Eye | |
| Iris Transillumination Defect | |
| Neurogenic Urinary Bladder | |
| Urinary Bladder Neurogenesis | |
| Aplasia Of The Abdominal Wall Musculature | Absence of the abdominal musculature. |
| Catatonia, Organic | |
| Schizophrenia | A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. |
| Abnormal Cervical Curvature | The presence of an abnormal curvature of the cervical vertebral column. |
| Multiple Pterygia | |
| Prolonged Miniature Endplate Currents | An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. |
| Shivering | |
| Serum Albumin Level | |
| Auditory Inattention | |
| Impaired Ristocetin-Induced Platelet Aggregation | |
| Abnormality Of The Tongue | Any abnormality of the tongue. |
| Absence Of Labia Majora | |
| Anterior Clefting Of Vertebral Bodies | Anterior schisis (cleft or cleavage) of vertebral bodies. |
| Axillary Pterygium | |
| Dysplastic Patella | |
| Intercrural Pterygium | A pterygium (or pterygia) in the intercrural (groin) region. |
| Long Clavicle | |
| Morphological Abnormality Of The Gastrointestinal Tract | Abnormal structure of the gastrointestinal tract. |
| Neck Pterygia | Pterygia affecting the neck. |
| Abnormality Of The Duodenum | An abnormality of the duodenum, i.e., the first section of the small intestine. |
| Joint Instability | |
| Multiple Contractures | |
| Coronal Cleft Vertebrae | Frontal schisis (cleft or cleavage) of vertebral bodies. |
| Decreased Hip Abduction | Reduced ability to move the femur outward to the side. |
| Deviation Of The 5Th Finger | Displacement of the 5th finger from its normal position. |
| Enlarged Joints | Increase in size of one or more joints. |
| Fixed Elbow Flexion | |
| Limited Hip Extension | Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. |
| Multiple Carpal Ossification Centers | A delay in the process of formation and maturation of the epiphysis of one or more long bones. |
| Narrow Vertebral Interpedicular Distance | A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. |
| Narrowing Of Intervertebral Disc Space | |
| Tibial Bowing | A bending or abnormal curvature of the tibia. |
| Ulnar Bowing | Bending of the diaphysis (shaft) of the ulna. |
| Corneal Crystalline Deposits | |
| Punctate Opacification Of The Cornea | Punctate opacification (reduced transparency) of the corneal stroma. |
| Abnormality Of The Lens | |
| Clinodactyly | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| Complete Duplication Of The Middle Phalanx Of The 3Rd Finger | |
| Partial Duplication Of The Proximal Phalanx Of The 3Rd Finger | |
| Proximal Radio-Ulnar Synostosis | An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. |
| Tibial Deviation Of The 2Nd Toe | |
| Tibial Deviation Of The 5Th Toe | |
| Aplasia Of The Sweat Glands | Absence of the sweat glands. |
| Epidermodysplasia Verruciformis | An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. |
| Loss Of Gluteal Subcutaneous Adipose Tissue | Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. |
| Marked Muscular Hypertrophy | |
| Abnormal Cd4:Cd8 Ratio | |
| Cutaneous Anergy | Inability to react to a delayed hypersensitivity skin test. |
| Decreased Circulating Beta-2-Microglobulin Level | |
| Recurrent Protozoan Infections | Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. |
| Recurrent Staphylococcus Aureus Infections | Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. |
| Reduced Mhc Ii Surface Expression | |
| Viral Hepatitis | A hepatitis that involves viral infection causing inflammation of the liver. |
| Small Penis | |
| Lumbar Disc Disease, Susceptibility To | |
| Abnormality Of Mesentery Morphology | |
| Impaired Collagen-Induced Platelet Aggregation | Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. |
| Renal Abnormalities | |
| Axial Dystonia | A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. |
| Neck Muscle Hypertrophy | |
| Frontal Hirsutism | Excessive amount of hair growth on forehead. |
| Lipid-Rich Carcinoma | |
| Emg: Myotonic Discharges | |
| Lid Lag | |
| Muscle Hypertrophy Of The Lower Extremities | Muscle hypertrophy primarily affecting the legs. |
| Pain In Limb | |
| Percussion Myotonia | A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). |
| Chronic Idiopathic Constipation | |
| Leukoencephalopathy | This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. |
| Eeg With Focal Spikes | |
| Bulging Epiphyses | A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). |
| Delayed Epiphyseal Ossification | |
| Enlargement Of The Ankles | |
| Increased Serum 1,25-Dihydroxyvitamin D3 | |
| Low-Molecular-Weight Proteinuria | Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). |
| Renal Phosphate Wasting | High urine phosphate in the presence of hypophosphatemia. |
| Sparse Bone Trabeculae | |
| Cortical Sclerosis | Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. |
| Fractures Of The Long Bones | An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna). |
| Generalized Osteosclerosis | An abnormal increase of bone mineral density with generalized involvement of the skeleton. |
| Osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| Sandwich Appearance Of Vertebral Bodies | |
| Abnormal Sclera Morphology | any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea |
| Hyperactive Renin-Angiotensin System | An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. |
| Impaired Reabsorption Of Chloride | |
| Increased Circulating Renin Level | An increased level of renin (PRO:000013883) in the blood. |
| Low-To-Normal Blood Pressure | |
| Prolonged Pr Interval | Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). |
| Prominent U Wave | |
| Salt Craving | An excessive desire to eat salt (sodium chloride) or salty foods. |
| St Segment Depression (Finding) | |
| Scarring Alopecia Of Scalp | |
| Ferritin Measurement | |
| Serum Ferritin Measurement | |
| Parathyroid Hormone Measurement | |
| Hypocitraturia | A lower than normal concentration of citrate(3-) in the urine. |
| Pseudocoloboma | |
| Immunoglobuin Deficiency | |
| Abnormal Vagina Morphology | any structural anomaly of the part of the genital canal in the female that extends between the cervix of the uterus and the vestibule; it is an organ of copulation that receives the penis during sexual intercourse |
| Broad Nail | Increased width of nail. |
| Recurrent Vulvovaginal Candidiasis | Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. |
| Abnormal Peristalsis | |
| Decreased Intestinal Transit Time | |
| Intestinal Hypoplasia | Developmental hypoplasia of the intestine. |
| Curvilinear Intracellular Accumulation Of Autofluorescent Lipopigment Storage Material | An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. |
| Fingerprint Intracellular Accumulation Of Autofluorescent Lipopigment Storage Material | An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. |
| Increased Extraneuronal Autofluorescent Lipopigment | Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| Increased Neuronal Autofluorescent Lipopigment | Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| Abnormal Nervous System Electrophysiology | An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. |
| Motor Deterioration | Loss of previously present motor (i.e., movement) abilities. |
| Rectilinear Intracellular Accumulation Of Autofluorescent Lipopigment Storage Material | An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. |
| Granular Osmiophilic Deposits (Grod) In Cells | |
| Advanced Sleep Phase | |
| Visual Fixation Instability | |
| Hand Pain | |
| Atypical Femoral Fracture | |
| Ocular Axial Length | |
| Frontal Balding | Absence of hair in the anterior midline and/or parietal areas. |
| Insulin Insensitivity | Decreased sensitivity toward insulin. |
| Iridescent Posterior Subcapsular Cataract | A type of posterior subcapsular cataract characterized by an iridescent color. |
| Abnormal Color Vision | |
| Spasmophilia | |
| Tetanilla | |
| Psychogenic Seizure | |
| Abdominal Discomfort | |
| Binge Eating Disorder | |
| Clasp-Knife Spasticity | |
| Shoulder Stiff | |
| Uremic Pruritus | |
| Kynurenine Measurement | |
| Absence Of Stomach Bubble On Fetal Sonography | |
| Elevated Brain Lactate Level By Mrs | |
| Peripheral Hypomyelination | Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. |
| Premature Birth Following Premature Rupture Of Fetal Membranes | |
| Progressive Ventriculomegaly | |
| Undetectable Visual Evoked Potentials | |
| Infra-Orbital Crease | Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. |
| Perivascular Spaces | |
| Progressive Language Deterioration | Progressive loss of previously present language abilities. |
| Selective Mutism | |
| Selective Mutism Specific To Childhood And Adolescence | |
| Cytochrome C Oxidase-Negative Muscle Fibers | |
| Increased Hepatocellular Lipid Droplets | An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. |
| Eye Of The Tiger Anomaly Of Globus Pallidus | The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. |
| Leptin Measurement | |
| Cochlear Degeneration | Degeneration of the cochlea. |
| Corneal Striae | |
| Postlingual Sensorineural Hearing Impairment | A form of sensorineural hearing impairment with onset after the acquisition of speech. |
| Abnormal Macular Morphology | |
| Irregularity Of Vertebral Bodies | |
| Abnormal Protein O-Linked Glycosylation | |
| Cervical Spinal Canal Stenosis | An abnormal narrowing of the cervical spinal canal. |
| Dilatated Internal Auditory Canal | The presence of a dilated inner part of external acoustic meatus. |
| Enlarged Semicircular Canal | |
| Fatal Liver Failure In Infancy | |
| Severe Intrauterine Growth Retardation | Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. |
| Abnormality Of The Frontal Hairline | An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. |
| Recurrent Infections In Infancy And Early Childhood | Recurrent infections at an early age with improvement in later childhood. |
| Abnormal Brain Lactate Level By Mrs | |
| Diaphyseal Thickening | |
| Irregular Acetabular Roof | |
| Metaphyseal Cupping Of Metacarpals | Metaphyseal cupping affecting the metacarpal bones. |
| Metaphyseal Cupping Of Proximal Phalanges | Metaphyseal cupping affecting the proximal phalanges. |
| Moderately Short Stature | A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. |
| Broad Ischia | Increased width of the ischium, which forms the lower and back part of the hip bone. |
| Broad Long Bones | Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. |
| Dumbbell-Shaped Long Bone | An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. |
| Meningeal Calcification | Calcium deposition affecting the Meninges. |
| Posterior Vertebral Hypoplasia | |
| Small Distal Femoral Epiphysis | Reduced size of the Distal epiphysis of femur. |
| Thin Clavicle | |
| Wide Tufts Of Distal Phalanges | |
| Widely Patent Coronal Suture | The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. |
| Widely Patent Sagittal Suture | The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. |
| Abnormal Lacrimal Duct Morphology | |
| Abnormal Metacarpal Morphology | Irregularly shaped metacarpal bones of varying degree. |
| Large Tarsal Bones | |
| Diaphragmatic Paresis | |
| Grip Strength Decreased | |
| Hyperextensibility At Wrists | The ability of the wrist joints to move beyond their normal range of motion. |
| Increased Laxity Of Fingers | |
| Discolored Lateral Incisors | |
| Fingerprints, Absence Of | |
| Irregular Dentition | |
| Oral Mucosal Blisters | Blisters arising in the mouth. |
| Palmar Hyperhidrosis | |
| Bronchobiliary Fistula | |
| Macular Hypoplasia | Underdevelopment of the macula lutea. |
| Peripapillary Atrophy | |
| Biconcave Flattened Vertebrae | |
| Bowing Of Limbs Due To Multiple Fractures | Curvature of the shafts of the long bones due to multiple fractures. |
| Cranial Asymmetry | Asymmetry of the bones of the skull. |
| Craniofacial Disproportion | |
| Crumpled Long Bones | An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. |
| Dental Calculus | |
| Femoral Bowing Present At Birth, Straightening With Time | Congenital onset bending or abnormal curvature of the femur that normalizes with age. |
| Genital Hernia | |
| Malar Prominence | Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. |
| Neonatal Short-Limb Short Stature | A type of short-limbed dwarfism that is manifest beginning in the neonatal period. |
| Osteogenesis Imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| Periosteal Thickening Of Long Tubular Bones | Thickening of the periosteum of long bone. |
| Severe Generalized Osteoporosis | |
| Abnormality Of Globe Size | An abnormality in the size of the ocular globe (eyeball). |
| Abnormality Of The Carpal Bones | An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). |
| Abnormality Of The Nasal Septum | An abnormality of the nasal septum. |
| Absent Vertebral Body Mineralization | A lack of bone mineralization of the vertebral bodies. |
| Acetabular Spurs | The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. |
| Amniotic Fluid Meconium Stained | |
| Anisospondyly | Abnormally increased variability of the size of the vertebral bodies. |
| Antegonial Notching Of Mandible | |
| Brachydactyly | A bone development disease characterized by short fingers and toes. |
| C1-C2 Subluxation | A partial dislocation of the atlantoaxial joints. |
| Cartilage Destruction | |
| Club-Shaped Proximal Femur | An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. |
| Decreased Cranial Base Ossification | |
| Delayed Calcaneal Ossification | Delayed maturation and calcification of the calcaneus. |
| Delayed Pubic Bone Ossification | Delayed maturation and calcification of the pubic bone. |
| Disc-Like Vertebral Bodies | |
| Flattened Femoral Head | An abnormally flattened femoral head. |
| Flattened, Squared-Off Epiphyses Of Tubular Bones | |
| Frank Breech Presentation | |
| Hyperextensibility At Elbow | |
| Inguinal Pain | |
| Limitation Of Knee Mobility | An abnormal limitation of knee joint mobility. |
| Limited Hip Movement | A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. |
| Lumbar Kyphoscoliosis | |
| Maternal Teratogenic Exposure | |
| Membranous Vitreous Appearance | |
| Metaphyseal Dappling | The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. |
| Narrow Femoral Neck | An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| Narrow Iliac Wings | Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). |
| Neck Stiffness | |
| Neonatal Short-Trunk Short Stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. |
| Pugilistic Facies | Coarse facial features reminiscent of those of a boxer. |
| Severe Limb Shortening | |
| Severe Platyspondyly | |
| Short Tubular Bones Of The Hand | |
| Shortening Of All Middle Phalanges | |
| Cigarette-Paper Scars | Thin (atrophic) and wide scars. |
| Foot Acroosteolysis | |
| Gastrointestinal Infarctions | |
| Hypermobility Of Distal Interphalangeal Joints | |
| Internal Hemorrhage | The presence of hemorrhage within the body. |
| Loss Of Scalp Hair | |
| Premature Delivery Because Of Cervical Insufficiency Or Membrane Fragility | |
| Pulmonary Artery Aneurysm | An aneurysm (localized balloon-like outward bulging) in the pulmonary artery. |
| Uterine Cervical Incompetence | |
| Uterine Rupture | |
| Arterial Stiffness | |
| Post-Traumatic Porencephaly | |
| Retinal Arteries, Tortuosity Of | |
| Diffuse Glomerular Basement Membrane Lamellation | Presence of abnormal additional layers of the basement membrane of the glomerulus. |
| Mild Proteinuria | Mildly increased levels of protein in the urine (150-500 mg per day in adults). |
| Cochlear Malformation | The presence of a malformed cochlea. |
| Hyperextensibility Of The Knee | |
| Irregularly Spaced Teeth | Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. |
| Subcutaneous Spheroids | |
| Abnormality Of Muscle Fibers | Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. |
| Ankle Contracture | A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. |
| Distal Joint Laxity | |
| Increased Laxity Of Ankles | |
| Loss Of Ability To Walk In Early Childhood | |
| Muscle Fiber Hypertrophy | |
| Reduced Muscle Collagen | |
| Restrictive Deficit On Pulmonary Function Testing | |
| Falls | |
| Hyperextensible Hand Joints | The ability of the joints of the hand to move beyond their normal range of motion. |
| Restricted Neck Movement Due To Contractures | |
| Dystrophic Toenail | Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. |
| Epidermolysis Bullosa | |
| Loss Of Eyelashes | This term refers to the loss of eyelashes that were previously present. |
| Madarosis Of Eyelid | |
| Mitten Deformity | Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a mitten hand deformity. |
| Palmoplantar Blistering | A type of blistering that affects the skin of the palms of the hands and the soles of the feet. |
| Corneal Stromal Edema | Abnormal accumulation of fluid and swelling of the stroma of cornea. |
| Caudal Appendage | The presence of a tail-like skin appendage located adjacent to the sacrum. |
| Epicanthus Inversus | A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. |
| Limited Pronation/Supination Of Forearm | A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). |
| Interleukin 19 Measurement | |
| Partial Abdominal Muscle Agenesis | Failure to form of portions of the abdominal musculature. |
| Prominence Of The Premaxilla | |
| Limited Wrist Extension | |
| Slow Pupillary Light Response | |
| Unfavorable Response Of Muscle Weakness To Acetylcholine Esterase Inhibitors | |
| Cervical Cord Compression | Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. |
| Childhood Onset Short-Limb Short Stature | |
| Fragmented, Irregular Epiphyses | |
| Spatulate Ribs | Ribs that are increased in width and taper to the posterior ends. |
| Cardiovascular Symptoms | |
| Chronic Cancer Pain | |
| Free-Floating Anxiety | |
| Headache Severe | |
| Motor Disturbances | |
| Musculoskeletal Pain | disease cluster belonging to disease group other |
| Oral Pain | |
| Verbal Hallucinations | |
| Perinatal Pulmonary Hemorrhage | |
| Pulmonary Hemorrhage | |
| Abnormal Rapid Eye Movement Sleep | |
| Autonomic Erectile Dysfunction | Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. |
| Heavy Proteinuria | |
| Myoglobinuria, Recurrent | |
| Severe Lactic Acidosis | A severe form of lactic acidemia. |
| Abnormal Renal Corticomedullary Differentiation | An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. |
| Focal T2 Hypointense Basal Ganglia Lesion | |
| Abnormality Of The Hepatic Vasculature | An abnormality of the hepatic vasculature. |
| Anomaly Of Placenta | |
| Increased Body Mass Index | greater than normal average of a measure of weight for height |
| Aspirin Sensitivity | |
| Infection By Spirocerca | |
| Muscle Pain Or Weakness | |
| Body Temperature Changes | |
| Ischemic Enteritis | |
| Neurogenic Pain | |
| Mitochondrial Complex Iv Deficiency | |
| Asymmetric, Linear Skin Defects | |
| Asterixis | |
| Ceruloplasmin Belfast Phenotype | |
| Serum Ceruloplasmin Measurement | Quantification of some ceruloplasmin in the blood |
| Postpartum Amenorrhea | |
| Interleukin 2 Measurement | |
| Central Y-Shaped Metacarpal | |
| Midline Notch Of Upper Alveolar Ridge | |
| Preaxial Foot Polydactyly | Duplication of all or part of the first ray. |
| Tongue Nodules | |
| Visual Discomfort | |
| Abnormal Sternal Ossification | Any anomaly in the formation of the bony substance of the sternum. |
| Malrotation Of Small Bowel | |
| Periventricular Cysts | |
| Persistent Cavum Septum Pellucidum | |
| Pseudoepiphyses | |
| Rib Segmentation Abnormalities | |
| Cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) |
| Finding Of Creatine Kinase Level | |
| Acute Episodes Of Neuropathic Symptoms | Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). |
| Emaciation | |
| Psychogenic Coma | |
| Cpt1A Arctic Variant | |
| Recurrent Encephalopathy | Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. |
| Transient Hyperlipidemia | |
| Abnormal Lower-Limb Motor Evoked Potentials | |
| Antenatal Intracerebral Hemorrhage | Cerebral hemorrhage that occurs before birth. |
| Decreased Plasma Free Carnitine | A decreased concentration of free (unbound) carnitine in the blood. |
| Elevated Total Bilirubin | |
| Inappropriate Sinus Tachycardia | |
| Intracerebral Periventricular Calcifications | The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. |
| Macrovesicular Hepatic Steatosis | A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. |
| Teat Papillomatosis | |
| Blood Sedimentation | Measurement of rate of settling of erythrocytes in anticoagulated blood. |
| Erythrocyte Sedimentation Rate Result | |
| Increased Head Circumference | |
| Carnitine Acetyltransferase Deficiency | |
| Luteinizing Hormone Measurement | |
| Abnormal Location Of The Eyebrow | |
| Abnormal Number Of Teeth | The presence of an altered number of of teeth. |
| Bifid Uterus | The presence of a bifid uterus. |
| Deviated Nasal Septum | Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. |
| Duplication Of Phalanx Of Hallux | Partial or complete duplication of one or more phalanx of big toe. |
| Hair Whorls | |
| Large Foramen Magnum | An abnormal increase in the size of the foramen magnum. |
| Obstruction Of Nasolacrimal Duct | |
| Plantar Crease Between First And Second Toes | The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. |
| Premature Development Of The Breasts | |
| Thumb Deformity | |
| Coronary Sinus Enlargement | |
| Body Rocking | |
| Head Banging | |
| Nose Symptoms | |
| Precordial Catch Syndrome | |
| Paroxysmal Nocturnal Dyspnea | |
| Aplasia/Hypoplasia Involving The Pelvis | |
| Abdominal Pain In Children | |
| Arterial Malformation | |
| Bulging Fontanelle | |
| Cardiac Pain | |
| Child Sexual Abuse | |
| Class I Obesity | |
| Cough With Fever | |
| Deep Caries | |
| Fatigue - Symptom | |
| Feeling Depressed | |
| Fever With Chills | |
| Heart Problem | |
| Intrapartum Fever | |
| Nonspecific Abdominal Pain | |
| Pathergy Reaction | |
| Positive And Negative Symptoms | |
| Postoperative Hip Pain | |
| Pruritus Ani | |
| Rectal Tenesmus | |
| Refusal To Bear Weight | |
| Right Iliac Fossa Pain | |
| Subfebrile | |
| Swallowing Painful | |
| Abnormality Of Higher Mental Function | Cognitive, psychiatric or memory anomaly. |
| Hypoglycosylation Of Alpha-Dystroglycan | |
| Reduced Muscle Fiber Alpha Dystroglycan | |
| Subcortical Heterotopia | |
| Externally Rotated/Abducted Legs | |
| Delayed Sleep Phase Disorder, Susceptibility To | |
| Accumulation Of Muscle Fiber Desmin | |
| Muscle Fiber Inclusion Bodies | |
| Posterior Capsular Cataract | |
| Posterior Y-Sutural Cataract | A type of sutural cataract in which the opacity follows the posterior Y suture. |
| Periorbital Swelling | |
| Cerebrospinal Fluid Rhinorrhea | |
| Crushing Sensation | |
| Fragmented Sleep | |
| Meningism | |
| Nerve Root Irritation | |
| Neurodegeneration | a retrogressive impairment of function or destruction of neural tissue |
| Orthostatic Headache | |
| Persistent Infection | |
| Post-Dural Puncture Headaches | |
| Post-Lumbar Puncture Headache | |
| Postural Headache | |
| Sinus Pressure | |
| Subdural Effusion | |
| Weakness Worsened | |
| Autoimmune Antibody Positivity | The presence of an antibody directed against the organism's own cells or tissues. |
| Crazy Paving Pattern On Pulmonary Hrct | |
| Elevated Carcinoembryonic Antigen Level | |
| Presence Of Foam Cells | |
| Bilateral Headache | |
| Generalized Headache | |
| Hemicrania | |
| Impairment, Light Touch Sensation | |
| Neoplasms, Therapy-Associated | |
| Ocular Headache | |
| Pain Sensation Diminished | |
| Periorbital Headache | |
| Pinprick Sensation Diminished | |
| Position Sense Disorders | |
| Proprioceptive Disorders | |
| Retro-Ocular Headache | |
| Sharp Headache | |
| Sluggishness | |
| Thermal Sensation Disorders | |
| Throbbing Headache | |
| Vertex Headache | |
| Respiration Intermittent | |
| Necrosis Of Pituitary Gland (Postpartum) | |
| Macrophage Colony Stimulating Factor Measurement | |
| Early Chronotype | |
| Abnormality Of The 5Th Metacarpal | Any abnormality of the fifth metacarpal bone. |
| Early Ossification Of Capital Femoral Epiphyses | |
| Open Operculum | Underdevelopment of the operculum. |
| Rhizomelic Arm Shortening | |
| Rhizomelic Leg Shortening | |
| Subretinal Deposits | |
| Twelfth Rib Hypoplasia | |
| Lumbodynia | |
| Excessive Wrinkling Of Palmar Skin | |
| Telomere Syndrome | |
| White Hair | Hypopigmented hair that appears white. |
| Cystathioninuria | An elevated urinary concentration of cystathionine. |
| Recurrent Intrapulmonary Hemorrhage | |
| Foveal Hyperpigmentation | Increased amount of pigmentation in the fovea centralis. |
| Vitamin K Assay | |
| Portal Vein Thrombosis, Ctcae | |
| Cri Du Chat | |
| Abnormality Of Thyroid Physiology | An abnormal functionality of the thyroid gland. |
| Abnormality Of Vitamin D Metabolism | |
| Elevated Intracellular Cystine | An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. |
| Generalized Aminoaciduria | An increased concentration of all types of amino acid in the urine. |
| Hyperchloremic Metabolic Acidosis | |
| Oral Motor Hypotonia | |
| Suicide | |
| Decreased Beta-Galactosidase Activity | Abnormally decreased rate of beta-galactosidase activity. |
| Galactosialidosis | |
| Mild Conductive Hearing Impairment | |
| Visceromegaly | Abnormal increased size of the viscera of the abdomen. |
| Choroid Plexus Calcification | The presence of calcium deposition in the choroid plexus. |
| Recurrent Bacterial Skin Infections | Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. |
| Early Fontanel Closure | |
| Hypoautofluorescent Retinal Lesion | |
| Abnormality Of The Distal Phalanx Of The Thumb | Any anomaly of the distal phalanx of thumb. |
| Mild Microcephaly | |
| Monotonic Speech | |
| Conjunctival Pigmentation | |
| Headache Recurrent | |
| Hepatic Sclerosis | |
| Progeroid Syndrome, Congenital, Petty Type | |
| Right Ventricular Dysfunction | |
| Pancreatic Pain | |
| Chemokine (C-X-C Motif) Ligand 6 Measurement | |
| Myocardial Preinfarction Syndrome | |
| Abnormality Of Neutrophil Morphology | An abnormal form or size of neutrophils. |
| Ambiguous Genitalia, Male | Ambiguous genitalia in an individual with XY genetic gender. |
| Lip Discoloration | |
| Primary Gonadal Insufficiency | |
| Absence Of Bactericidal Oxidative Respiratory Burst In Phagocytes | |
| Decreased Activity Of Nadph Oxidase | |
| Deficiency Or Absence Of Cytochrome B(-245) | |
| Rectal Abscess | A collection of pus in the area of the rectum. |
| Recurrent Aspergillus Infections | An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. |
| Recurrent Burkholderia Cepacia Infections | Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. |
| Recurrent Klebsiella Infections | Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. |
| Recurrent Serratia Marcescens Infections | Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. |
| Anterior Cerebral Circulation Infarction | |
| Anterior Circulation Brain Infarction | |
| Brain Infarction, Posterior Circulation | |
| Recurrent Mycobacterial Infections | Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. |
| Venous Infarction, Brain | |
| Ancell-Spiegler Cylindromas | |
| Sulfur Granules | |
| Abnormal Urine Potassium Concentration | An abnormal concentration of potassium(1+) in the urine. |
| Adrenocorticotropic Hormone Excess | Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. |
| Decreased Circulating Androgen Level | |
| Generalized Bronze Hyperpigmentation | |
| Low Maternal Serum Estriol | An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. |
| Abnormal Circulating Aldosterone | |
| Accelerated Bone Age After Puberty | |
| Increased Circulating Androgen Level | |
| Precocious Puberty In Males | The onset of puberty before the age of 9 years in boys. |
| Early Menarche | |
| Follicle Stimulating Hormone Measurement | |
| Macroorchidism | The presence of abnormally large testes. |
| Maternal Virilization In Pregnancy | Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. |
| Polymyalgia | |
| Arteritis | Arterial inflammation. |
| Abnormal Descemet Membrane Morphology | |
| Central Opacification Of The Cornea | Reduced transparency of the central portion of the corneal stroma. |
| Thinning Of Descemet Membrane | |
| Anti-Nuclear Antibody Measurement | |
| Hypervitaminosis | |
| Aplasia Of Optic Nerve | |
| Abnormality Of Buccal Mucosa | |
| Abnormality Of Epidermal Morphology | An abnormality of the morphology of the epidermis. |
| Mast Cell Abnormality | |
| Abnormality Of Central Somatosensory Evoked Potentials | |
| Hypercholesterolemia Result | |
| Bulging Of The Costochondral Junction | Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. |
| Deformed Rib Cage | Malformation of the rib cage. |
| Enlargement Of The Costochondral Junction | Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. |
| Irregular, Rachitic-Like Metaphyses | |
| Low Serum Calcitriol | |
| Subperiosteal Bone Resorption | |
| Abnormality Of The Skull | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| Efavirenz, Poor Metabolism Of | |
| Warfarin Sensitivity (Disorder) | |
| Drug Metabolism, Poor, Cyp2C19-Related | |
| Infant, Small For Gestational Age | |
| Rhabdomyolysis, Cerivastatin-Induced | |
| Coumarin Sensitivity | |
| Gastroduodenal Haemorrhage | |
| Acute Dystonia | |
| Afterbirth Pain | |
| Catatonic Rigidity | |
| Drug Metabolism, Poor, Cyp2D6-Related | |
| Extensor Rigidity | |
| Extrapyramidal Rigidity | |
| Gegenhalten | |
| Nuchal Rigidity | |
| Reasoning | Thinking that is coherent and logical. |
| Binge Drinking | |
| Assay For Tacrolimus | |
| Vitamin E Assay | |
| Abnormality Of Vitamin A Metabolism | |
| Abnormality Of Vitamin E Metabolism | |
| Acholic Stool | |
| Pale Feces (Finding) | |
| Cyst Of Hydatid Of Morgagni | |
| Glutaric Aciduria | An increased concentration of glutaric acid in the urine. |
| Inspiratory Stridor | Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. |
| Subependymal Cysts | |
| Abnormal Conjugate Eye Movement | Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. |
| Thyroid Function | Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body. |
| Abnormality Of The Tragus | An abnormality of the tragus. |
| Aplasia/Hypoplasia Of The 3Rd Toe | |
| Death Anxiety | |
| Dysmyelinating Leukodystrophy | |
| Impaired Pursuit Initiation And Maintenance | |
| Spastic/Hyperactive Bladder | |
| Partial Chromosome Y Deletion | |
| Spermatogenic Failure | |
| Elevated Urinary Dopamine | An increased concentration of dopamine in the urine. |
| Intermittent Hypothermia | Episodes of reduced body termperature. |
| Retrograde Ejaculation | The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. |
| Spasmodic Torticollis | |
| Decreased Serum Insulin-Like Growth Factor 1 | |
| Impaired Distal Tactile Sensation | A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. |
| Mirror Movements | |
| Short 4Th Metacarpal | Short fourth metacarpal bone. |
| Short Fourth Metatarsal | Short fourth metatarsal bone. |
| Increased Corneal Thickness | A increased anteroposterior thickness of the cornea. |
| Birth Length | |
| Defective Dna Repair After Ultraviolet Radiation Damage | |
| Flat Nasal Alae | An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). |
| Decreased Csf Homovanillic Acid | |
| Elevated Csf Dopamine Level | |
| Abolished Vibration Sense | |
| Absence Of Pain Sensation | |
| Impaired Tactile Sensation | A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. |
| Ulcer | |
| Abnormal Calcification Of The Carpal Bones | |
| Progressive Calcification Of Costochondral Cartilage | |
| Abnormal Epiphyseal Ossification | An abnormality of the formation and mineralization of an epiphysis. |
| Central Vertebral Hypoplasia | |
| Fibular Overgrowth | Relatively increased growth of the fibula compared to that of the tibia. |
| Facial Features | |
| Iron Accumulation | |
| Erythrodysplasia | |
| Increased Blood Monocyte Number | |
| Abnormality Of The Philtrum | An abnormality of the philtrum. |
| Absent Cupid'S Bow | |
| Abnormality Of Limbs | |
| Abnormality Of The Ureter | An abnormality of the ureter. |
| Corticospinal Tract Hypoplasia | |
| Eeg With Central Focal Spikes | |
| Horizontal Eyebrow | An eyebrow that extends straight across the brow, without curve. |
| Mild Intrauterine Growth Retardation | Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. |
| Normal Interictal Eeg | |
| Postauricular Skin Tag | A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). |
| Back Pain Mechanical | |
| Reduced Systolic Function | |
| Scapuloperoneal Weakness | |
| Calculus Of Kidney And Ureter | |
| Mood Instability | |
| Depletion Of Mitochondrial Dna | |
| Alveolar Ridge Overgrowth | Increased width of the alveolar ridges. |
| Aplasia/Hypoplasia Affecting The Eye | |
| Elevated 7-Dehydrocholesterol | Elevated 7-dehydrocholesterol levels. |
| Facial Capillary Hemangioma | |
| Obstruction Of Pelviureteric Junction | |
| Infection By Pneumocystis Jirovecii (Disorder) | |
| Decreased Number Of Peripheral Myelinated Nerve Fibers | A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). |
| Sensory Ataxic Neuropathy | |
| Midgut Malrotation | |
| Abnormal Muscle Tone | |
| Abnormality Of Head Or Neck | An abnormality of head and neck. |
| Alpha-Aminoadipic Aciduria | |
| Transcortical Sensory Dysphasia | |
| Abnormal Auditory Evoked Potential | |
| Absence Of Acoustic Reflex | Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. |
| Eeg With Focal Spike Waves | EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. |
| Secondary Caesarian Section | |
| Distal Ileal Atresia | |
| Naevus Flammeus Of The Eyelid | |
| Longitudinal Split Nail | |
| Phimosis | |
| Reticulated Skin Pigmentation | |
| Splits In Nails (Finding) | |
| Abnormality Of The Clivus | An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. |
| Abnormality Of The Eleventh Cranial Nerve | |
| Abnormality Of The Twelfth Cranial Nerve | |
| Anteriorly Placed Odontoid Process | Anterior mislocalization of the dens of the axis. |
| Recurrent Paroxysmal Headache | |
| Small Posterior Fossa | |
| Tumor-Associated Process | |
| Increased Urine Alpha-Ketoglutarate Concentration | |
| Posterior Myocardial Infarction | |
| Subendocardial Ischemia | |
| Female Puberty | |
| Abnormality Of The Odontoid Process | Abnormality of the dens of the axis, which is also known as the odontoid process. |
| Block Vertebrae | Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). |
| Arachnoid Hemangiomatosis | The presence of multiple hemangiomas in the arachnoid. |
| Elevated Calcitonin | Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. |
| Elevated Urinary Epinephrine | An increased concentration of adrenaline in the urine. |
| Elevated Urinary Norepinephrine | An increased concentration of noradrenaline in the urine. |
| Positive Regitine Blocking Test | A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. |
| Obliteration Of The Calvarial Diploe | |
| Hyponasal Speech | |
| Abnormal Muscle Fiber Dystrophin Expression | |
| Difficulty Passing Urine | |
| Elevated N,N-Dimethylglycine Level | |
| Elevated Urinary N,N-Dimethylglycine Level | |
| Fish Odor | |
| Abnormality Of The Sacroiliac Joint | An anomaly of the sacroiliac joint. |
| Dental Abscess | |
| Distal Femoral Bowing | A bending or abnormal curvature of the distal portion of the femur. |
| Hyperocclusion | |
| Rickets Of The Lower Limbs | |
| Abnormality Of The Upper Urinary Tract | An abnormality of the upper urinary tract. |
| Decreased Mitochondrial Number | |
| Dyslexia, Susceptibility To, 1 | |
| Abnormality Of The Uvula | Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. |
| Interleukin 1 Receptor Antagonist Measurement | |
| Brain Waves | |
| Sperm Head Anomaly | A structural abnormality of the sperm head. |
| Sexual Inhibition | |
| Skeletal Muscle Fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| Low Frustration Tolerance | |
| 3-Methylglutaric Aciduria | |
| Bilateral Basal Ganglia Lesions | |
| Glutaric Acidemia | An increased concentration of glutaric acid in the blood. |
| Irregular Ossification At Anterior Rib Ends | |
| Narrow Sacroiliac Notch | The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. |
| Persistence Of Hemoglobin F | Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. |
| Protein S Measurement | |
| Slowed Slurred Speech | |
| Change In Voice (Finding) | |
| Voice Disturbance | |
| Sleepy Facial Expression | |
| Abnormality Of The Cerebrospinal Fluid | An abnormality of the cerebrospinal fluid (CSF). |
| Heavier Menses | |
| Predominantly Lower Limb Lymphedema | Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. |
| Proportionate Tall Stature | |
| Supraventricular Tachycardia With An Accessory Connection Mediated Pathway | |
| Widely Spaced Toes | An overall widening of the spaces between the digits. |
| Reduced Natural Killer Cell Count | |
| Allergy Chronic | |
| Mild Eczema | |
| Racing Thoughts | |
| Fmri | |
| Absent Palmar Crease | The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). |
| Tubular Aggregates | |
| Reduced Protein S Activity | |
| Absent Smooth Pursuit | |
| Decreased Sialylation Of O-Linked Protein Glycosylation | |
| Pitting Edema | |
| Ventricular Fibrillation | Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. |
| Globozoospermia | Any structural anomaly of the acrosome resulting in a round sperm head. |
| 1P21.3 Microdeletion Syndrome | |
| Abnormal Eating Behavior | Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. |
| Long Ear | Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. |
| Reduced Dihydropyrimidine Dehydrogenase Activity | |
| Vomiting, Recurrent | |
| Ocular Ischemic Syndrome | |
| Gambling | |
| Attention Deficit Disorder | |
| Autonomic Nervous System Dysfunction | |
| Chronic Motor Or Vocal Tic Disorder | |
| Novelty Seeking Personality Trait | |
| Oppositional Behavior | |
| Vldl Cholesterol Measurement | |
| Streaks Of Hyperkeratosis Along Each Finger Onto The Palm | |
| Complete Right Bundle Branch Block | |
| Patchy Alopecia | |
| Increased Troponin I Level In Blood | |
| Palmoplantar Keratosis With Erythema And Scale | |
| Tapered Distal Phalanges Of Finger | A reduction in diameter of the distal phalanx of finger towards the distal end. |
| Periapical Bone Loss | |
| Blotching Pigmentation Of The Skin | |
| Premature Graying Of Body Hair | |
| Renal Hypodysplasia | |
| Silver-Gray Hair | Hypopigmented hair that appears silver-gray. |
| Decreased T3/T4 Ratio | |
| Iodide Organification Defect | |
| Generalized Muscle Wasting | |
| Broad Toe | Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. |
| Duplication Of The Distal Phalanx Of Hand | This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. |
| Onychogryposis Of Fingernail | |
| Ridged Fingernail | Longitudinal, linear prominences in the fingernail plate. |
| Abdominal Cramps | |
| Deformed Sella Turcica | |
| Delayed Femoral Head Ossification | Delayed ossification of the femoral head. |
| Flaring Of Lower Rib Cage | |
| Flat Glenoid Fossa | Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. |
| Iliac Crest Serration | Irregularities of the iliac crest that produce the appearance of a lace border around it. |
| Multicentric Femoral Head Ossification | There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. |
| Multicentric Ossification Of Proximal Femoral Epiphyses | |
| Multicentric Ossification Of Proximal Humeral Epiphyses | |
| Wide Pubic Symphysis | Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. |
| Decreased Patellar Reflex | Decreased intensity of the patellar reflex (also known as the knee jerk reflex). |
| Knee Reflex Absent | |
| Localized Hirsutism | Abnormally increased hair growth with a localized distribution. |
| Small Toe | |
| Tibialis Atrophy | |
| Absent Or Delayed Speech Development | |
| Decreased Body Mass Index | less than normal average of a measure of weight for height |
| Maternal Fever In Pregnancy | |
| Maternal First Trimester Fever | |
| Severe Speech Delay | |
| Widened Cerebral Subarachnoid Space | |
| Absent Muscle Fiber Dysferlin | |
| Decreased/Absent Ankle Reflexes | |
| Finger Flexor Weakness | |
| Limited Knee Flexion/Extension | A limited ability of the knee joint extension and flexion. |
| Muscular Edema | |
| Abnormality Of Facial Musculature | An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| Broad Chin | Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. |
| Pain After Application | |
| 2-Succinyl-5-Enolpyruvyl-6-Hydroxy-3-Cyclohexene-1-Carboxylic-Acid Synthase Activity | |
| Asymmetry Of The Mouth | |
| Calcific Stippling | An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). |
| Elevated 8(9)-Cholestenol | |
| Elevated 8-Dehydrocholesterol | |
| Hemiatrophy | Undergrowth of the limbs that affects only one side. |
| Saddle Nose | |
| Scleral Abscess | |
| Stippled Calcification In Carpal Bones | Point-shaped (punctate) calcifications affecting the carpal bones. |
| Tarsal Stippling | The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. |
| Posttraumatic Aphasia | |
| Arthrogryposis | Persistent flexure or contracture of a joint. (Dorland, 27th ed) |
| Bilateral Intracranial Calcifications | Deposition of calcium salts on both sides of the brain. |
| Koilonychia | |
| Periorbital Hyperpigmentation | Increased pigmentation of the skin in the region surrounding the orbit of the eye. |
| Skin Peeling/Scaling (Newborn) | |
| Hair Morphology 1 | |
| Abnormality Of The Forehead | An anomalyof the forehead. |
| Hair Absent (Finding) | |
| Sparse Lateral Eyebrow | Decreased density/number and/or decreased diameter of lateral eyebrow hairs. |
| Prothrombin Time Assay | |
| Abnormality Of The Crus Of The Helix | An abnormality of the crus of the helix (FMA:61024), which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. |
| Abnormality Of The Temporomandibular Joint | |
| Aplasia/Hypoplasia Of The External Ear | The presence of aplasia or developmental hypoplasia of all or part of the external ear. |
| Cleft Helix | A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. |
| Mandibular Condyle Aplasia | |
| White Eyebrow | White color (lack of pigmentation) of the eyebrow. |
| White Eyelashes | White color (lack of pigmentation) of the eyelashes. |
| White Forelock | A triangular depigmented region of white hairs located in the anterior midline of the scalp. |
| Aganglionosis Of The Small Intestine | |
| Deep-Set Nails | Deeply placed nails. |
| Thin Nails | |
| Generalized Hyperreflexia | |
| Interferon Gamma Measurement | |
| Generalized Arterial Tortuosity | Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. |
| Eeg With Generalized Polyspikes | |
| Interleukin 7 Measurement | |
| Few Cafe-Au-Lait Spots | The presence of two to five cafe-au-lait macules. |
| Gastric Irritation | |
| Pseudoarthrosis Of Clavicle | |
| Unilateral Breast Hypoplasia | Underdevelopment of the breast on one side only. |
| Morphological Abnormality Of The Middle Ear | An abnormality of the morphology or structure of the middle ear. |
| Oval Fat Body | |
| Papulopustular Rash | |
| Discomfort | |
| Diverticulum | |
| Recurrent Bronchiolitis | |
| Hematocrit Increased | |
| Hemoglobin Increased | |
| Increased Red Blood Cell Mass | The presence of an increased mass of red blood cells in the circulation. |
| Erythrocytosis | |
| Graft Occlusion, Vascular | |
| Intimal Proliferation | |
| Hypertrophic Nerve Changes | |
| Incomplete Spermatogenic Arrest | |
| Bifunctional Peroxisomal Enzyme Deficiency | |
| Abnormal Pelvis Bone Morphology | |
| Abnormality Of The Lumbar Spine | An abnormality of the lumbar vertebral column. |
| Gastrointestinal Discomfort | |
| Prominent Palatine Ridges | |
| Sterility, Reproductive | |
| Irregular Tarsal Ossification | Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. |
| Ivory Epiphyses Of The Phalanges Of The Hand | Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. |
| Decreased Circulating Progesterone | |
| Feeling Tense | |
| Cleft Lower Alveolar Ridge | |
| Cleft Mandible | Midline deficiency of the mandible and some or all overlying tissues. |
| Abnormal Eosinophil Morphology | any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions |
| Neutrophil Count Decreased | |
| Fibrosis Of Mesentery | |
| Serum Total Protein Measurement | |
| Supraumbilical Raphe | |
| Early Onset Of Sexual Maturation | An early onset of puberty, in this case early does not refer to precocious. |
| Effects Of Heat | |
| Macular Flecks | Pale often indistinct lesions of the macula. |
| Decreased Sensitivity To Hypoxemia | Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. |
| Hypogeusia | |
| Absent Muscle Fiber Emerin | |
| Atrial Arrhythmia | |
| Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles | |
| Proximal Upper Limb Amyotrophy | Muscular atrophy affecting proximally located muscles of the arms. |
| Ventricular Escape Rhythm | |
| Abnormal Joint Morphology | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| Podocyte Foot Process Effacement | a podocyte reaction to injury or damage characterized by flattening of foot processes due to gradual simplification of the interdigitating foot process; the whole podocyte looks flat due to retraction, widening, and shortening of the processes of each podocyte while the frequency of filtration slits is reduced, giving the appearance of a continuous cytoplasmic sheet covering the glomerular basement membrane |
| Yellow-Brown Discoloration Of The Teeth | |
| Dilatation Of Celiac Artery | |
| Dilatation Of Mesenteric Artery | |
| Graves Disease, Susceptibility To, 1 | |
| Oral Cavity Telangiectasia | |
| Venous Varicosities Of Celiac And Mesenteric Vessels | Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. |
| Increased Muscle Glycogen Content | An increased amount of glycogen in muscle tissue. |
| Convulsion In Childhood | |
| Generalized Arterial Calcification | Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. |
| Parietal Bossing | Parietal bossing is a marked prominence in the parietal region. |
| Excessive Bleeding From Superficial Cuts | |
| Erratic Myoclonus | |
| Secondary Anemia Nos | |
| Leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| Glioma Susceptibility | |
| Inflammatory Carcinoma | |
| Other Lesions Of Median Nerve | |
| Sister Mary Joseph'S Nodule | |
| Erythroleukemia, Familial, Susceptibility To | |
| Sperm Motility Measurement | |
| Bird-Like Facies | |
| Low-Set Nipples | Placement of the nipples at a lower than normal location. |
| Numerous Pigmented Freckles | |
| Tiger Tail Banding | |
| Increased Cellular Sensitivity To Uv Light | |
| Thumb Absent | |
| Cerebellar Calcifications | |
| Decreased Lacrimation | Abnormally decreased lacrimation, that is, reduced ability to produce tears. |
| Deep Longitudinal Plantar Crease | Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. |
| Loss Of Facial Adipose Tissue | Loss of normal subcutaneous fat tissue in the face. |
| Patchy Demyelination Of Subcortical White Matter | Patchy loss of myelin from nerve fibers in the central nervous system. |
| Peripheral Dysmyelination | Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. |
| Pigmentation Anomalies Of Sun-Exposed Skin | |
| Second Metatarsal Posteriorly Placed | |
| Slender Nose | |
| Subcortical White Matter Calcifications | |
| Abnormality Of Calvarial Morphology | The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. |
| Abnormality Of Midbrain Morphology | An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. |
| Thymic Hormone Decreased | |
| Cloverleaf Skull | Trilobar skull configuration when viewed from the front or behind. |
| Poor Concentration | |
| Abnormality Of Jaw Muscles | |
| Bilateral External Ear Deformity | |
| Glabellar Reflex | |
| Radin Blood Group Antigen | |
| Scianna Blood Group System, Sc:-1,-2 Phenotype | |
| Systemic Cryptococcosis | |
| Aplasia Of The Ulna | |
| Enlarged Labia Minora | Increase in size of the folds of skin between the outer labia. |
| Mesomelic Arm Shortening | Shortening of the middle parts of the arm in relation to the upper and terminal segments. |
| Premature Separation Of Centromeric Heterochromatin | |
| Carcinoid Tumor, Malignant | |
| Elevated Tissue Non-Specific Alkaline Phosphatase | An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. |
| Estrogen Receptor Mutant, Temperature-Sensitive | |
| Marked Delay In Bone Age | |
| Bladder Symptoms | |
| Impatience | |
| Lithiasis | |
| Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect | |
| Acquired Amegakaryocytic Thrombocytopenia | |
| Echogenic Kidneys | |
| Paucity Of Anterior Horn Motor Neurons | |
| Elevated Brain Choline Level By Mrs | |
| Microbrachycephaly | |
| Abnormal Pericardium Morphology | any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels |
| Madelung-Like Forearm Deformities | |
| Multiple Long-Bone Exostoses | |
| Peripheral Nerve Compression | |
| Protuberances At Ends Of Long Bones | The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. |
| Rib Exostoses | Multiple circumscribed bony excrescences located in the ribs. |
| Abnormality Of The Middle Ear Ossicles | An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). |
| Enlarged Cochlear Aqueduct | |
| Gustatory Lacrimation | Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. |
| Incomplete Partition Of The Cochlea | Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. |
| Central Pain | |
| Dysharmonic Bone Age | Different levels of maturation of different bones. |
| Viral Carcinogenesis | |
| Antepartum Hemorrhage | |
| Antepartum Hemorrhage Affecting Fetus Or Newborn | |
| Anterior Epistaxis | |
| Hemarthrosis | |
| Hemoperitoneum | Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. |
| Postpartum Hemorrhage | |
| Prolonged Bleeding After Dental Extraction | Prolonged bleeding post dental extraction sufficient to require medical intervention. |
| Prolonged Bleeding After Surgery | Bleeding that persists longer than the normal time following a surgical procedure. |
| Reduced Factor X Activity | |
| Gait Deviation | |
| Histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| Patella Baja | |
| Episodic Upper Airway Obstruction | Intermittent episodes of increased resistance to the passage of air in the upper airway. |
| Factor Xii (Locarno) Phenotype | |
| Increased Bilirubin Level (Finding) | |
| Interleukin 16 Measurement | |
| Intestinal Edema | Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. |
| Prolonged Whole-Blood Clotting Time | An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. |
| Bleeding With Minor Or No Trauma | |
| Delayed Onset Bleeding | |
| Hematoma | |
| Persistent Bleeding After Trauma | |
| Prolonged Bleeding Following Circumcision | |
| Recurrent Thrombophlebitis | Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). |
| Thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| Venous Thrombosis, Susceptibility To | |
| Dysprothrombinemia Prothrombin Himi-Ii | |
| Embolism | |
| Ketonemia | |
| Mesenteric Venous Thrombosis | |
| Prothrombin Type 3 Phenotype | |
| Reduced Prothrombin Activity | Decreased activity of coagulation factor II, which is also known as prothrombin. |
| Reduced Prothrombin Antigen | |
| Stroke, Ischemic, Susceptibility To | |
| Atypical Chest Pain | |
| Budd-Chiari Syndrome | |
| Factor V Hong Kong Phenotype | |
| Spontaneous Intracranial Hemorrhage | |
| Stem Cell Factor Measurement | |
| Intracranial Hematoma, Traumatic | |
| Posterior Fossa Hemorrhage | |
| Factor Viii (East Hartford) Phenotype | |
| Factor Viii (Okayama) Phenotype | |
| Reduced Factor Viii Activity | |
| Reduced Factor Ix Activity | Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. |
| Color Vision Test Abnormality | |
| Anticipatory Nausea | |
| Colonic Inertia | |
| Rectal Sensation | |
| Functional Hyposplenism | |
| Arachidonic Acid Measurement | |
| Episodic Peripheral Neuropathy | |
| Abnormal Circulating Follicle-Stimulating Hormone Level | |
| Abnormality Of The Medullary Cavity Of The Long Bones | An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. |
| Postnatal Macrocephaly | The postnatal development of an abnormally large skull (macrocephaly). |
| Retinal Calcification | Deposition of calcium salts in the retina. |
| Thin Long Bone Diaphyses | |
| Dagger-Shaped Pulp Calcifications | Dagger-shaped calcifications in the dental pulp. |
| Hypophosphaturia | |
| Increased Circulating Osteocalcin Level | |
| Brachyturricephaly | |
| Choanal Stenosis | Abnormal narrowing of the choana (the posterior nasal aperture). |
| Deficient Excision Of Uv-Induced Pyrimidine Dimers In Dna | |
| Growth Retardation, Pre- And Postnatal | |
| Prolonged G2 Phase Of Cell Cycle | |
| Reticulocytopenia | A reduced number of reticulocytes in the peripheral blood. |
| Absence Attacks | |
| Vater Association With Hydrocephalus | |
| Functional Abdominal Pain Syndrome | |
| Muscle Abnormality Related To Mitochondrial Dysfunction | |
| Squamous Cell Carcinoma, Burn Scar-Related, Somatic | |
| Taste Disorder | |
| Taste, Metallic | |
| Physiologic Intraocular Pressure | |
| Metatarsal Synostosis | |
| Vascular Tortuosity | |
| Abnormal Maternal Serum Screening | An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. |
| Bilateral Hallux Valgus | |
| Fifth Metacarpal With Ulnar Notch | Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). |
| Hyperextensible Thumb | |
| Incisional Hernia | An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. |
| Increased Arm Span | |
| Increased Axial Length Of The Globe | |
| Medial Rotation Of The Medial Malleolus | |
| Premature Calcification Of Mitral Annulus | Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus . MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. |
| Stiff Skin | An induration (hardening) of the skin |
| Abnormally Folded Helix | |
| Patellar Subluxation | The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. |
| Increased Urinary Glycerol | |
| Intermittent Hyperventilation | Episodic hyperventilation. |
| Reye Syndrome-Like Episodes | |
| Mild Dysmorphic Features | |
| Galectin-3 Measurement | |
| Igg Receptor I, Phagocytic, Familial Deficiency Of | |
| Tenalgia | |
| Facial Pain | |
| Skin-Ache Syndrome | |
| Acral Blistering | |
| Symblepharon | A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. |
| Abnormality Of The Lymph Nodes | A lymph node abnormality. |
| Autoresuscitation | |
| Vitamin A Measurement | |
| Fibrinogen Dusart Phenotype | |
| Cervical Spine Hypermobility | |
| Curved Linear Dimple Below The Lower Lip | |
| Increased Upper To Lower Segment Ratio | Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. |
| Nipple Pain | |
| Sore Nipple | |
| Absence Of Stensen Duct | |
| Absent Proximal Phalanx Of Thumb | Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| Lacrimal Gland Aplasia | A congenital defect of development characterized by absence of the lacrimal gland. |
| Lacrimal Gland Hypoplasia | Underdevelopment of the lacrimal gland. |
| Small Thenar Eminence | Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. |
| Fused Fourth And Fifth Metacarpals | |
| Abnormal Granulation Tissue | |
| Catabolic State | |
| Abnormality Of The Maxilla | An abnormality of the Maxilla (upper jaw bone). |
| Trichomegaly | |
| Benign Prostatic Hypertrophy | |
| Gingival Hyperplasia | |
| Limited Interphalangeal Movement | |
| Abnormal Cartilage Morphology | Any abnormality of cartilage. |
| Calcaneonavicular Fusion | Synostosis of the calcaneus with the navicular bone. |
| Cartilaginous Trachea | |
| Linear Hyperpigmentation | |
| Pseudarthrosis | |
| Abnormal Morphology Of The Limbic System | |
| Abnormality Of The Zygomatic Bone | An abnormality of the zygomatic bone. |
| Absent First Metatarsal | A developmental defect characterized by the absence of the first metatarsal bone. |
| Anomalous Tracheal Cartilage | |
| Asymmetrical Skull | |
| Broad Distal Hallux | |
| Broad Distal Phalanx Of The Thumb | Increased width of the distal phalanx of thumb. |
| Cleft Of Chin | Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. |
| Deviation Of The Thumb | Displacement of the thumb from its normal position. |
| Estrogen Receptor Status - Clinical Trial Eligibility Criteria | |
| Exophthalmos, Bilateral | |
| Familial Scaphocephaly Syndrome | |
| Incomplete Ossification Of Pubis | |
| Pfeiffer Syndrome | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| Preauricular Skin Furrow | A groove of the skin immediately in front of the ear. |
| Prominent Scrotal Raphe | Increased size of the ridge of tissue that extends along the midline of the scrotum. |
| Bowed Humerus | A bending or abnormal curvature of the humerus. |
| Broad Femoral Metaphyses | |
| Enlarged Cerebellum | An abnormally increased size of the cerebellum compared to other brain structures. |
| Infantile Axial Hypotonia | Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. |
| Lumbar Kyphosis In Infancy | |
| Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans | |
| Short Sacroiliac Notch | The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. |
| Small Abnormally Formed Scapulae | |
| Small Foramen Magnum | An abnormal narrowing of the foramen magnum. |
| Spinal Stenosis With Reduced Interpedicular Distance | An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). |
| Temporal Bossing | |
| Trident Hand | A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. |
| Wide-Cupped Costochondral Junctions | |
| Cancer Progression And Tumor Cell Motility | disease cluster belonging to disease group cancer |
| Cutaneous Leiomyosarcoma (Less Common) | |
| Decreased Fumarate Hydratase Activity | An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. |
| Uterine Leiomyosarcoma (Less Common) | |
| Maximal Voluntary Ventilation | |
| Uruguay Faciocardiomusculoskeletal Syndrome | |
| Long Hallux | Increased length of the big toe. |
| Abnormal Parietal Bone Morphology | any structural anomaly of the curved bone forming part of the vault of the cranium |
| Abnormality Of Dental Structure | An abnormality of the structure or composition of the teeth. |
| Abnormality Of The Occipital Bone | |
| Absent Sternal Ossification | Lack of formation of mineralized bony tissue of the sternum. |
| Aplasia/Hypoplasia Of The Clavicles | Absence or underdevelopment of the clavicles (collar bones). |
| Broad Secondary Alveolar Ridge | |
| Narrow Nasal Base | |
| Vitamin Measurement | |
| Major Depressive Disorder, Increased Recurrence Of Depressive Episodes In, Susceptibility To | |
| Abnormality Of The Tongue Muscle | |
| Decreased Thalamic Volume | |
| Elevated Aldolase Level | |
| Fatigable Weakness Of Skeletal Muscles | |
| Fusion Of The Cerebellar Hemispheres | |
| Gross Motor Impairment | |
| Hyperextensible Skin Of Face | |
| Muscular Dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| Postural Hypotension With Compensatory Tachycardia | |
| Reduced Muscle Fiber Merosin | |
| Thigh Hypertrophy | Muscle hypertrophy affecting the thighs. |
| Myocardial Fibrosis | |
| Neural Tissue Tumors | |
| Nonpapillary Renal Carcinoma 1 Locus | |
| Abnormality Of Salivation | |
| Alcohol Sensitivity | |
| Allergy To Eggs | |
| Dermatitis, Atopic, 2, Susceptibility To | |
| Oral Allergy Syndrome | |
| Abnormality Of The Scalp | Abnormality of the scalp. |
| Abnormality Of The Superior Cerebellar Peduncle | An anomaly of the superior cerebellar peduncle. |
| Elevated Carcinoma Antigen 125 Level | |
| Pelvic Mass | |
| Vascular Fragility | |
| Abnormal Hand Bone Ossification | An abnormality of the formation and mineralization of any bone of the skeleton of hand. |
| Abnormality Of The Tarsal Bones | An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. |
| Absent/Hypoplastic Paranasal Sinuses | Aplasia or hypoplasia of the paranasal sinuses. |
| Anterior Concavity Of Thoracic Vertebrae | |
| Bipartite Calcaneus | A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. |
| Increased Density Of Long Bone Diaphyses | |
| Increased Size Of The Mandible | |
| Lateral Femoral Bowing | A lateral bending or abnormal curvature of the femur. |
| Limited Knee Flexion | |
| Localized Skin Lesion | A lesion of the skin that is located in a specific region rather than being generalized. |
| Long Metacarpals | An abnormally increased length of the metacarpal bones. |
| Nonossified Fifth Metatarsal | The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. |
| Partial Fusion Of Carpals | |
| Partial Fusion Of Tarsals | |
| Rudimentary Fibula | Absent or nearly absent fibula. (Does not include aplastic) |
| Short 3Rd Metacarpal | Short third metacarpal bone. |
| Steep Mandibular Plane Angle | |
| Thick Skull Base | |
| Vertical Clivus | An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). |
| Abnormal Ossification Involving The Femoral Head And Neck | |
| Absent Humerus | Missing humerus bone associated with congenital failure of development. |
| Achromia Of Skin | |
| C2-C3 Subluxation | A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. |
| Cervical Kyphosis | Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. |
| Cervical Segmentation Defect | An abnormality related to a defect of vertebral separation of cervical vetebrae during development. |
| Epiphyseal Stippling Of The Humerus | |
| Exhibitionism | |
| Horizontal Sacrum | |
| Laryngotracheal Stenosis | |
| Multinucleated Giant Chondrocytes In Epiphyseal Cartilage | |
| Patellar Hypoplasia | Underdevelopment of the patella. |
| Poorly Ossified Vertebrae | Decreased ossification of the vertebral bodies. |
| Thoracic Platyspondyly | A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. |
| Tombstone-Shaped Proximal Phalanges | |
| Widened Distal Phalanges | |
| Abnormal Morphology Of Left Ventricular Trabeculae | |
| Decreased Finger Mobility | |
| Muscle Fiber Cytoplasmatic Inclusion Bodies | The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. |
| Hyperreflexia Proximally | |
| Hypogonadiotropic Hypogonadism | |
| Ankle Edema (Finding) | |
| Hemangioma, Capillary Infantile, Somatic | |
| Abnormal Sensory Nerve Conduction Velocity | |
| Scotoma, Ring | |
| Abnormality Of Coordination | |
| Fmo3 Activity, Decreased | |
| Agoraphobia | A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. |
| Avoidant Personality Disorder | A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. |
| Developmental Symptoms | |
| Digestive Problem | |
| Folate-Dependent Fragile Site At Xq28 | The presence of a folate sensitive fragile site at chromosome Xq28. |
| Impaired Tandem Gait | |
| Fibronectin Measurement | |
| Hyperconvex Vertebral Body Endplates | |
| Interleukin 4 Measurement | |
| Drop Attack | |
| Abnormal Iris Vasculature | |
| Abnormality Of The Pulmonary Vasculature | |
| Spinalarachnoid Cyst | |
| Anterior Segment Of Eye Aplasia | |
| Aortic Aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| Gallbladder Absent | |
| Decreased Proportion Circulating T-Helper Cells | |
| Pitting Of Nails | |
| Skin Keratosis | |
| Abnormality Of Skin Adnexa Morphology | |
| Aphonia | |
| Speech And Language Abnormalities | |
| Anti-Liver Cytosolic Antigen Type 1 Antibody Positivity | |
| Decreased Prealbumin Level | |
| Dependency On Intravenous Nutrition | |
| Infantile Colic | |
| Insulin Receptor Antibody Positivity | |
| Islets Of Langerhans, Absence Of | |
| Reduced Proportion Of Cd4-Negative, Cd8-Negative, Alpha-Beta Regulatory T Cells | |
| Pain Of Uterus | |
| Cleft Ala Nasi | The presence of a notch in the margin of the ala nasi. |
| Extension Of Hair Growth On Temples To Lateral Eyebrow | A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows. |
| Abnormal Respiratory System Morphology | A structural anomaly of the respiratoy system. |
| Abnormality Of The 5Th Toe | An anomaly of the little toe. |
| Aplasia Of The Bladder | |
| Mildly Reduced Visual Acuity | |
| Spermatozoa Abnormal | |
| Cullen'S Sign | |
| Dizygotic Twins (Disorder) | |
| Increased Capillary Permeability (Finding) | |
| Increased Serum Testosterone Level | |
| Peripheral Edema | |
| Chronic Bladder Pain | |
| Positive Ferric Chloride Test | If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. |
| Decreased Serum Ferritin | Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. |
| Genetic Hyperferritinemia Without Iron Overload | |
| Adiposity | disease cluster belonging to disease group metabolic |
| Cervical Platyspondyly | A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. |
| Mucopolysacchariduria | Excessive amounts of mucopolysaccharide in the urine. |
| Oligosacchariduria | Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. |
| Bombay Phenotype | |
| Vitamin B12 Plasma Level Quantitative Trait Locus 1 | |
| Abnormality Of The Wing Of The Ilium | An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. |
| Sacral Agenesis Syndrome | |
| Decreased Pyruvate Carboxylase Activity | A decreased rate of pyruvate carboxylase activity. |
| Impaired Visually Enhanced Vestibulo-Ocular Reflex | |
| Mitochondrial Malic Enzyme Reduced | |
| Resistin Measurement | Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies |
| Anger | |
| Change In Stool Consistency | |
| Limited Elbow Flexion/Extension | |
| Peripheral Retinal Avascularization | |
| Retinal Exudates | |
| Cushingoid Facies | |
| Doll-Like Facies | A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. |
| Elevated Gamma-Glutamyltransferase Activity | |
| G6Pd Tomah Phenotype | |
| Hemoglobin A Measurement | |
| Silent Cerebral Infarct | |
| Firm Muscles | |
| Alcoholic Blackout | |
| Blackout - Symptom | |
| Hemiclonic Seizures | |
| Alcoholism, Susceptibility To | |
| Bifid Ribs | A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. |
| Eeg With Centrotemporal Focal Spike Waves | EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. |
| Color Of Iris | |
| Uncontrolled Pain | |
| Galactosuria | Elevated concentration of galactose in the urine. |
| Hypergalactosemia | |
| Impairment Of Galactose Metabolism | An impairment of galactose metabolism. |
| Cervical Subluxation | A partial dislocation of one or more intervertebral joints in the cervical vertebral column. |
| Chondroitin Sulfate Excretion In Urine | An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. |
| Constricted Iliac Wings | |
| Epiphyseal Deformities Of Tubular Bones | |
| Grayish Enamel | A grey discoloration of the dental enamel. |
| Keratan Sulfate Excretion In Urine | An increased concentration of keratan sulfate in the urine. |
| Large Elbow | |
| Pointed Proximal Second Through Fifth Metacarpals | All of the metacarpal bones of the hand have a pointed proximal appearance. |
| Conjunctival Whitish Salt-Like Deposits | The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. |
| Decreased Renal Tubular Phosphate Excretion | |
| Increased Renal Tubular Phosphate Reabsorption | |
| Subperiosteal Bone Formation | |
| Increased Level Of Galactitol In Plasma | |
| Increased Level Of Galactitol In Red Blood Cells | |
| Increased Level Of Galactitol In Urine | |
| Increased Level Of Galactonate In Red Blood Cells | |
| Reduced Brain Creatine Level By Mrs | |
| Diffuse Axonal Swelling | |
| Pili Canaliculi | Uncombable hair. |
| Infection By Baylisascaris | |
| Brushfield Spots | The presence of whitish spots in a ring-like arrangement at the periphery of the iris. |
| Crisis State | |
| Shallow Acetabular Fossae | |
| Acute Myeloid Leukemia | Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. |
| Monocytopenia | An decreased number of circulating monocytes. |
| Neutrophil Count Abnormal | |
| Recurrent Mycobacterium Avium Complex Infections | Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. |
| Severe Back Pain | |
| Abnormality Of T Cell Physiology | A deviation from the normal count of T cells. |
| Thoracic Aorta Calcification | |
| Anterior Pituitary Agenesis | Absence of the pituitary gland resulting from a developmental defect. |
| Aplasia/Hypoplasia Of The Diaphragm | Absence or underdevelopment of the diaphragm. |
| Aplasia/Hypoplasia Of The Gallbladder | Absence or underdevelopment of the gallbladder. |
| Dysplastic Pulmonary Valve | |
| Pancreatic Aplasia | |
| Monocular Strabismus | |
| Dementia, Lewy Body, Susceptibility To | |
| Fluctuations In Consciousness | |
| Hypometric Horizontal Saccades | Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. |
| Reticular Hyperpigmentation | Increased pigmentation of the skin with a netlike (reticular) pattern. |
| Abnormal Tendon Morphology | An abnormality of the structure or form of the tendons, also often called sinews. |
| Jerky Ocular Pursuit Movements | |
| Patellar Clonus | |
| Upper Limb Dysmetria | |
| Fetal Hydrops (In Perinatal Or Congenital Neuromuscular Forms) | |
| Glycogen Storage Disease | A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. |
| Abnormality Of Acetylcarnitine Metabolism | |
| Subgingival Dental Calculus | |
| Ciliary Body Spasm | |
| Dyschezia | |
| Early Satiety | |
| Generalized Spasms | |
| Lipase Hypersecretion Syndrome | |
| Abnormal Biliary Tract Morphology | A structural abnormality of the biliary tree. |
| Pain In Esophagus (Finding) | |
| Abnormality Of The Autonomic Nervous System | An abnormality of the autonomic nervous system. |
| Fasting Hyperglycaemia | |
| Iatrogenic Hyperinsulinism | |
| Recurrent Hypoglycemia | Recurrent episodes of decreased concentration of glucose in the blood. |
| Fasting Plasma Glucose Level Quantitative Trait Locus 5 | |
| Lactic Acid Measurement | |
| Late-Onset Spinocerebellar Degeneration | |
| Axonal Degeneration/Regeneration | A pattern of simultaneous degeneration and regeneration of axons (see comment). |
| Axonal Regeneration | The presence of axonal regeneration following a previous axonal lesion. |
| Basal Lamina Onion Bulb Formation | |
| Inability To Walk By Childhood/Adolescence | |
| Abdominal Situs Ambiguus | an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements |
| Cervical C3/C4 Vertebral Fusion | |
| Abnormally Shaped Carpal Bones | |
| Acromesomelia | Small hands and feet. |
| Aplasia/Hypoplasia Of Metatarsal Bones | Absence or underdevelopment of the metatarsal bones. |
| Deformed Tarsal Bones | |
| Malaligned Carpal Bone | Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). |
| Valgus Hand Deformity | |
| Cervicomedullary Schisis | |
| Corneal Sensitivity | |
| Cutaneous Hyperalgesia | |
| Episodic Hypertension | |
| Restless Sleep | |
| Strabismus, Comitant | |
| Breakthrough Cancer Pain | |
| Tendency To Fall | |
| Knee Stiff | |
| Decreased Absolute Neurophile Count (Anc) | |
| Reduced Prothrombin Consumption | The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. |
| Absent Retinal Pigment Epithelium | |
| Increased Number Of Skin Folds | |
| Gamma Glutamyl Transferase Measurement | |
| Colon Growth | |
| Growth Hormone Insensitivity Syndrome | |
| Impaired Growth-Hormone Response To Insulin Stimulation Test | |
| Physical Appearance, Body | |
| Pygmy (Disorder) | |
| Aplasia/Hypoplasia Involving The Nose | Underdevelopment or absence of the nose or parts thereof. |
| Increased Responsiveness To Growth Hormone | |
| Metabolic Syndrome, Susceptibility To | |
| Parkinson Disease | |
| Nk Cell Deficiency | |
| Abnormal Heart Beat | |
| Abnormality Of Chromosome Segregation | An abnormality of chromosome segregation. |
| Absent Middle Phalanx Of 5Th Finger | Absence of the middle phalanx of the little (5th) finger. |
| Labored Breathing | |
| Mid-Systolic Murmur | |
| Patchy Sclerosis Of Finger Phalanx | Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. |
| Thin Anteverted Nares | This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. |
| Toe Syndactyly | Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as Symphalangism. |
| Vertebral Hyperostosis | Excessive growth of the bones of the vertebral bodies. |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb | |
| Cns Symptom | |
| Acquired Hearing Loss | |
| Honeycomb Palmoplantar Keratoderma | |
| Phlegmon | |
| Stapes Ankylosis | Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). |
| Peripheral Neuropathy With Sensorineural Hearing Impairment Syndrome | |
| Abnormal Motor Evoked Potentials | |
| Demyelinating Motor Neuropathy | Demyelination of peripheral motor nerves. |
| Head Titubation | A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. |
| Maternal Fever | |
| Lipiduria | |
| Neurological Pain | |
| Other License Status | |
| Intimal Thickening In The Coronary Arteries | |
| Thick Rib | |
| Widening Of Cervical Spinal Canal | |
| Abnormal Prolactin Level | |
| Facial Dysmorphism With Multiple Malformations | |
| Absent Hallux | Aplasia of the hallux, that is, a development defect such that the big toe does not develop. |
| Aplasia/Hypoplasia Of The Vagina | Aplasia or developmental hypoplasia of the vagina. |
| Auricular Tag | |
| Distal Shortening Of Limbs | |
| Mesomelic Leg Shortening | Shortening of the middle parts of the leg in relation to the upper and terminal segments. |
| Partial Absence Of Foot | |
| Proximal Tibial And Fibular Fusion | |
| Rudimentary To Absent Tibiae | |
| Y-Shaped Metacarpals | Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. |
| Abnormality Of The Nasal Cavity | Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). |
| Oral Mucosa Nodule | |
| Nocturnal Seizures | |
| Decreased Mean Corpuscular Volume | less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices |
| Hypochromatism | |
| Habitual Snoring | |
| Vascular Cell Adhesion Molecule 1 Measurement | |
| Asymptomatic Hyperammonemia | An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. |
| Hyperleucinemia | |
| Gm2-Ganglioside Accumulation | |
| Abnormality Of The Middle Phalanx Of The 5Th Finger | |
| Dilatation Of The Ventricular Cavity | |
| Megakaryocytopenia | A reduced count of megakaryocytes. |
| Ventricular Tachycardia | |
| Cleft At The Superior Portion Of The Pinna | This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. |
| Abnormal Vena Cava Morphology | any structural anomaly of either of the two largest veins in the body |
| Abnormal Venous Morphology | |
| Birthmark | |
| Pigmentation Of The Sclera | |
| Broad 1St Metacarpal | |
| Cortical Subperiosteal Resorption Of Humeral Metaphyses | |
| Ectopic Calcification | Deposition of calcium salts in a tissue or location in which calcification does not normally occur. |
| Increased Bone Density With Cystic Changes | |
| Large Cafe-Au-Lait Macules With Irregular Margins | Large hypermelanotic macules with jagged borders. |
| Low Urinary Cyclic Amp Response To Pth Administration | |
| Mild Myopia | |
| Actual Effective Cognition | |
| Abnormality Of The Right Hemidiaphragm | |
| Emg Positive Sharp Waves | |
| Limited Shoulder Movement | A limitation of the range of movement of the shoulder joint. |
| Disorder Of Sulfur-Bearing Amino Acid Metabolism | |
| Stippled Calcification Proximal Humeral Epiphyses | |
| Bullet-Shaped Phalanges Of The Hand | The presence of short and wide phalanges which taper distally (bullet shaped). |
| Increased Serum Beta-Hexosaminidase | This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. |
| Increased Serum Iduronate Sulfatase Activity | An increased rate of iduronate-2-sulfatase activity in the blood. |
| Lower Thoracic Interpediculate Narrowness | A reduction of the distance between the lower thoracic vertebral pedicles. |
| Progressive Alveolar Ridge Hypertropy | |
| Soft Tissue Swelling Of Interphalangeal Joints | |
| Varus Deformity Of Humeral Neck | |
| Decreased Circulating Gonadotropin Level | less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis |
| Cellular Metachromasia | Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. |
| Heparan Sulfate Excretion In Urine | An increased concentration of heparan sulfates in the urine. |
| Ovoid Thoracolumbar Vertebrae | |
| Decreased Platelet Glycoprotein Ib-Ix-V | |
| Intermittent Thrombocytopenia | Reduced platelet count that occurs sporadically, i.e., it comes and goes. |
| Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To | |
| Partially Duplicated Kidney | |
| Bads Syndrome | |
| Atresia | |
| Dark Yellow Urine | |
| Birth Length Greater Than 97Th Percentile | |
| Duplication Of Renal Pelvis | A duplication of the renal pelvis. |
| Six Lumbar Vertebrae | |
| Submucous Cleft Lip | A cleft of the lip with overlying mucous membrane. |
| Two Carpal Ossification Centers Present At Birth | |
| Anterolateral Radial Head Dislocation | A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. |
| Increased Fibular Diameter | Increased width of the cross sectional diameter of the fibula. |
| Micromelic Dysplasia, Congenital, With Dislocation Of Radius | |
| Increased Urinary Taurine | Increased concentration of taurine in the urine. |
| Pigment Gallstones | Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. |
| Holoprosencephaly With Fetal Akinesia-Hypokinesia Sequence | |
| Depigmented Fundus | |
| Giant Melanosomes In Melanocytes | The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. |
| Iris Hyperpigmentation | |
| Optic Nerve Misrouting | |
| Abnormal Large Intestine Physiology | A functional anomaly of the large intestine. |
| Dilated Superficial Abdominal Veins | |
| Elevated Alkaline Phosphatase Of Hepatic Origin | |
| Polyclonal Elevation Of Igm | |
| Cramps Of Lower Extremities | |
| Early Complication | |
| Feeling Nervous | |
| Splenic Varices | |
| Blastocyst Disintegration | |
| Dietary Selenium Deficiency | |
| Embryo Death | |
| Embryo Disintegration | |
| Embryo Loss | |
| Embryo Resorption | |
| Horizontal Inferior Border Of Scapula | |
| Irregular Tarsal Bones | |
| Large Posterior Fontanelle | An enlargement of the posterior fontanelle relative to age-dependent norms. |
| Inner Ear Malformation | |
| Abnormal Salivary Gland Morphology | any structural anomaly of the saliva-secreting glands of the oral cavity |
| Fetal Mummification | |
| Lower Lip Pit | Depression located on the vermilion of the lower lip, usually paramedian. |
| Nasal, Dysarthic Speech | |
| Short Face | |
| Abnormality Of Muscle Size | Abnormalities of the overall muscle bulk based on clinical observation. |
| Retrocerebellar Cyst | |
| Diagnostic Techniques, Cardiovascular | |
| Aprosodia | |
| Cluttering | |
| Dysglossia | |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation | |
| Eeg With Focal Sharp Waves | |
| Rhinolalia | |
| Speech Dysfunction | |
| Verbal Fluency Disorders | |
| Ovarian Reserve | Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones. |
| Feeling Suicidal (Finding) | |
| Abnormality Of Ocular Abduction | An abnormality involving the movement of the eye outwards. |
| Sighing Respiration | |
| Delayed Ossification Of Pubic Rami | Delayed maturation and calcification of the rami (branches) of the pubic bone. |
| Scapulohumeral Synostosis | Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. |
| Abnormal Spleen Morphology | any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets |
| Deficit In Phonologic Short-Term Memory | |
| Ptosis Of Eyebrow | |
| Glyoxalase Deficiency | |
| Increased Level Of L-Pyroglutamic Acid In Urine | |
| Complete Spermatogenic Arrest | |
| Neoplasms, Multiple Primary | |
| Kala-Azar | |
| Pleural Rub | |
| Respiratory Sounds | |
| Rhonchi | |
| Hyoplasia Of The Leydig Cells | |
| Myofiber Disarray | |
| Foveal Photoreceptor Outer Segment Loss On Macular Oct | |
| Perifoveal Ring Of Hyperautofluorescence | |
| Gastrointestinal Pain | |
| Moyamoya Disease | A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. |
| Reduced Number Of Intrahepatic Bile Ducts | The presence of reduced numbers of intrahepatic bile duct than normal. |
| Fundus Atrophy | |
| Hyperthreoninemia | An increased concentration of threonine in the blood. |
| Hyperthreoninuria | An increased concentration of threonine in the urine. |
| Posterior Open Bite | |
| Proximal Tapering Of Metacarpals | Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. |
| Decreased Muscle Glycogen Content | A decreased amount of glycogen in muscle tissue. |
| Inverted T Wave | |
| Scleritis | |
| Gerbich Blood Group System, Gerbich Phenotype | |
| P Mitrale (Finding) | |
| Hemoglobin, Ctcae | |
| Precancerous Polyps | |
| Absent Pubertal Growth Spurt | |
| Increased C-Peptide Level | |
| Equinus Calcaneus | Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. |
| Increased Histidine | |
| Abnormality Of Endocrine Pancreas Physiology | A function abnormality of the endocrine pancreas. |
| Elevated Transferrin Saturation | |
| Prenatal Alcohol Exposure | |
| Hepatocyte Growth Factor Measurement | |
| Central Cyanosis | |
| Hemoglobin Evanston Phenotype | |
| Fetal Hemoglobin Quantitative Trait | |
| Hb Niigata | |
| Hemoglobin Aubenas Phenotype | |
| Hemoglobin C Phenotype | |
| Hemoglobin Gambara Phenotype | |
| Hemoglobin Houston Phenotype | |
| Hemoglobin Saint Etienne Phenotype | |
| Hemoglobin Tubingen Phenotype | |
| Increased Red Cell Sickling Tendency | |
| Blanching Of Skin | |
| Pulpalgia | |
| Happy Demeanor | |
| Chronic Pelvic Pain Syndrome | |
| Tic, Motor | |
| Tic, Vocal | |
| Diffuse Spongiform Leukoencephalopathy | |
| Diffuse Swelling Of Cerebral White Matter | |
| Brittle Scalp Hair | |
| Increased Carrying Angle | An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. |
| Pili Torti Developmental Delay Neurological Abnormalities | |
| Generalized Hypopigmentation | |
| Spondylocostal Dysostosis | A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. |
| Unilateral Vertebral Artery Hypoplasia | |
| Abnormal Thalamic Mri Signal Intensity | |
| Gm2-Gangliosidosis | |
| Hexa, Czechoslovakian Allele Phenotype | |
| Brugada Ecg Pattern | |
| Microvascular Complications Of Diabetes | |
| Prphyria | |
| Transferrin Serum Level Quantitative Trait | |
| Dense Calvaria | An abnormal increase of density of the bones making up the calvaria. |
| Facial Hirsutism | Excess facial hair. |
| Inappropriate Sexual Behavior | |
| Interictal Epileptiform Activity | |
| Facial Shape Deformation | |
| Asphyxia | |
| Emg: Myokymic Discharges | |
| Exercise-Induced Leg Cramps | |
| Limb Fasciculations | Fasciculations affecting the musculature of the arms and legs. |
| Short Third Metatarsal | |
| Blind-Spot Enlargment | |
| Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To | |
| Photoreceptor Layer Loss On Macular Oct | |
| 17 Hydroxyprogesterone Measurement | |
| Hiv-1 Viremia, Susceptibility To | |
| Nail Loss | |
| Beryllium Disease, Chronic, Susceptibility To | |
| Low Iq | |
| Mycobacterium Tuberculosis, Susceptibility To Infection By | |
| Allergy To Fruit | |
| Loss Of Facial Expression | |
| Pathological Dilatation | |
| Infection By Hepatozoon | |
| Brown Urine | |
| Moody (Finding) | |
| 12Q14 Microdeletion Syndrome | |
| Radiolabeled Somatostatin Analog Study | |
| Placentitis (Disorder) | |
| Systemic Vasculitis | |
| Increased Level Of 3-Hydroxy-3-Methylglutaric Acid In Urine | |
| Lipid Accumulation In Hepatocytes | |
| Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3 | |
| Surgical Wound Dehiscence | |
| Brain Death | |
| Diffuse Inflammation | |
| Decreased Level Of 1,5 Anhydroglucitol In Serum | |
| Low Renal Threshold For Glucose | |
| Abnormality Of Alkaline Phosphatase Activity | An abnormality of alkaline phosphatase activity. |
| Aplasia/Hypoplasia Of The Pancreas | A congential underdevelopment (aplasia or hypoplasia) of the pancreas. |
| Decreased Numbers Of Nephrons | A reduction in the count of nephrons per kidney. |
| Abnormality Of Long Bone Morphology | An abnormality of size or shape of the long bones. |
| Ubiquitin-Positive Cerebral Inclusion Bodies | |
| Weakness Of Muscles Of Respiration | Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. |
| Decreased Movement Range In Interphalangeal Joints | |
| Flexion Limitation Of Toes | Limitation of the ability to bend the toes. |
| Broad Uvula | |
| Underdeveloped Inferior Crus Of Antihelix | |
| Underfolded Helix | Underdevelopment of the helix that either affects the entire helix, or is localized. |
| Hallucination Of Body Sensation | |
| Verbal Auditory Hallucinations | |
| Dds Syndrome | |
| Heart Overload | |
| Delayed Tarsal Ossification | Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. |
| Longitudinal Vaginal Septum | The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. |
| Short First Metatarsal | Short first metatarsal bone. |
| Congenital Vertical Talus, Bilateral | |
| 2Nd-5Th Toe Middle Phalangeal Hypoplasia | |
| 6 Metacarpals | |
| Absent Distal Interphalangeal Creases | Absence of the distal interphalangeal flexion creases of the fingers. |
| Enlarged Proximal Interphalangeal Joints | |
| Transient Hypertension Of Pregnancy | |
| 4-Hydroxyphenylacetic Aciduria | Increased concentration of 4-hydroxyphenylacetic acid in the urine. |
| 4-Hydroxyphenylpyruvic Aciduria | Increased concentration of pyruvic acid in the urine. |
| Seed Corn | |
| Mottled Pigmentation | Patchy and irregular skin pigmentation. |
| Alcohol Consumption During Pregnancy | |
| Increased Urinary Urate | Elevanted concentration of urate in the urine. |
| Freckles In Sun-Exposed Areas | |
| Impaired Adp-Induced Platelet Aggregation | Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. |
| Generalized Papillary Lesions | |
| Nevus Spilus, Somatic | |
| Poor Respiratory Effort | |
| Estrogen Receptor Measurement | |
| Recurrent Thromboembolism | |
| Abnormal Urine Sodium Concentration | An abnormal concentration of sodium in the urine. |
| Abnormality Of Circulating Cortisol Level | An abnormality of the concentration of cortisol in the blood. |
| Apparent Mineralocorticoid Excess, Mild | |
| Dysplasia Of The Femoral Head | The presence of developmental dysplasia of the femoral head. |
| Upper Motor Neuron Signs | |
| Abnormally Straight Spine | The absence of the normal curvature of the vertebral column. |
| Anterior Bowing Of Long Bones | An abnormal anterior curvature of a long bone. |
| Long Eyelashes In Irregular Rows | |
| Pursed Lips | An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. |
| Despondency | |
| Reduced Amygdala Volume | |
| Prodromal States | |
| Nausea In Pregnancy | |
| Vagal Autonomic Bradycardia | |
| Motor Manifestations | |
| Neuronal Loss In Basal Ganglia | A reduction in the number of nerve cells in the basal ganglia. |
| Abnormality Of The Mandible | Any abnormality of the mandible, the bone of the lower jaw. |
| Absent Nares | The nostrils (the paired channels of the nose) are not present. |
| Short Stature, Postnatal | |
| Thick Corpus Callosum | Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. |
| Cotinine Measurement | |
| Adrenal Gland Dysgenesis | Abnormal development of the adrenal gland. |
| Cleft In Skull Base | A bony defect in the skull base. |
| Gingival Cleft | |
| Proximal Tibial Hypoplasia | |
| Severe Hydrocephalus | |
| Decreased Activity Of Mitochondrial Complex Ii | A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. |
| Primary Graft Dysfunction | |
| Near Sudden Infant Death Syndrome | |
| Urinary Glycosaminoglycan Excretion | Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. |
| Aortic Arch Calcification | |
| Expanded Metacarpals With Widened Medullary Cavities | |
| Expanded Metatarsals With Widened Medullary Cavities | |
| Expanded Phalanges With Widened Medullary Cavities | |
| Mediastinal Emphysema | |
| Influenza, Severe, Susceptibility To | |
| Anterior Radial Head Dislocation | A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. |
| Colicky Pain | |
| Penile Curvature | |
| Achromatic Retinal Patches | Areas of the retina lacking pigmentation. |
| Cortical Tubers | Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. |
| Subependymal Nodules | Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter. |
| Abnormal Bronchus Physiology | |
| Enlarged Mesenteric Lymph Node | |
| Curvature Of Spine | |
| Malformation Of The Hepatic Ductal Plate | |
| Breathing Abnormally Deep | |
| Small Forehead | The presence of a forehead that is abnormally small. |
| Demyelination | |
| Growing Pains | |
| Small Placenta | Reduced size of the placenta. |
| Somatomedin-C Measurement | |
| Decreased Attention | |
| Transient Edema | |
| Experimental Organism Islet Cell Adenoma Neoplasm | |
| Fetus Small For Gestational Age | |
| Reduced Insulin Like Growth Factor Binding Protein Acid Labile Subunit Level | |
| Retinal Arterial Macroaneurysm With Supravascular Pulmonic Stenosis | |
| Retinal Arterial Macroaneurysms | |
| Axonal Polyneuropathy | |
| Denervation Of The Diaphragm | Interruption of the innervation of the diaphragm. |
| Paralysis Of Diaphragm | |
| Ventilator Dependence With Inability To Wean | |
| Prolactin Deficiency, Isolated | |
| Lacrimal Duct Defect | |
| Enlargement Of The Distal Femoral Epiphysis | An abnormal enlargement of the distal epiphysis of the femur. |
| Proportionate Shortening Of All Digits | |
| Small Finger | |
| Direct Hyperbilirubinemia, Neonatal | |
| Retinal Vascular Proliferation | |
| Sle-Like Symptoms | |
| Allergic Rhinitis, Susceptibility To | |
| Sleep Onset Insomnia | |
| Nasal Congestion (Finding) | |
| Post-Transplant Neoplasia | |
| Abscess Of Skin And/Or Subcutaneous Tissue | |
| Pain In Finger | |
| Interleukin 1 Receptor-Like 1 Measurement | |
| Progression Of Rheumatoid Arthritis | |
| Breakthrough Pain | |
| New-Onset Refractory Status Epilepticus | |
| Achlorhydria | absence of hydrochloric acid in the gastric secretions |
| Fibropolycystic Disease Of Liver | |
| Gastric Cancer Susceptibility After H. Pylori Infection | |
| Non-Organic Sleep Disorder | |
| Toothache | |
| Slight Temperature | |
| Milk Allergy | |
| Abnormally Low T Cell Receptor Excision Circle Level | |
| Recurrent Viral Skin Infections | |
| Reduced Proportion Of Naive T Cells | |
| Unbearable Pain | |
| Allergic Reaction To Insect Bite | |
| Atopy, Susceptibility To (Finding) | |
| After Pains | |
| Chest Discomfort | |
| Chest Pressure | |
| Fluid Retention In Lung | |
| Upper Back Pain | |
| Interleukin 6, Serum Level Of, Quantitative Trait Locus | |
| Soluble Interleukin-6 Receptor, Serum Level Of, Quantitative Trait Locus | |
| Increased Ige Level | An abnormally increased level of immunoglobulin E in blood. |
| Psoriasiform Lesion | |
| Fetal Descent | |
| Impdh2 Enzyme Activity, Variation In | |
| Tunnel Visual Field Constriction | |
| Abdominal Mass | |
| Contrast Sensitivity | |
| Abnormality Of Ocular Smooth Pursuit | An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. |
| Absent Epiphyses | |
| Brainstem Dysplasia | A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. |
| Triangular-Shaped Open Mouth | A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. |
| Increased Adipose Tissue | An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). |
| Postpericardiotomy Syndrome | |
| Formication | |
| Painful Paresthesias | |
| Ventricular Outflow Obstruction | |
| Adipose Tissue Loss | A loss of adipose tissue. |
| Prominent Nipples | |
| Esophageal Diverticulum | |
| Short-Rib Thoracic Dysplasia | |
| Absence Of Renal Corticomedullary Differentiation | A lack of differentiation between renal cortex and medulla on diagnostic imaging. |
| Hyperkalemic Metabolic Acidosis | |
| Renal Cortical Microcysts | Cysts of microscopic size confined to the cortex of the kidney. |
| Large Central Visual Field Defect | |
| Inappropriate Crying | |
| Recurrent Staphylococcal Infections | |
| Long Palm | For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. |
| Plantar Flexion Contractures | |
| Ventouse Delivery (Finding) | |
| Disturbance Of Facial Expression | An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. |
| Diabetes, Type Ii, Susceptibility To | |
| Abnormal Iron Deposition In Mitochondria | |
| Anti-Glutamic Acid Decarboxylase Antibody Positivity | |
| Decreased Platelet Glycoprotein Iib-Iiia | Decreased cell membrane concentration of glycoprotein IIb-IIIa. |
| Impaired Clot Retraction | |
| Elevated Maternal Serum Alpha-Fetoprotein | An elevation of alpha-feto protein in the maternal serum. |
| Recurrent Gram-Negative Bacterial Infections | Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. |
| Posttransfusion Purpura | |
| Cotton Wool Plaques | |
| Kawasaki Disease | A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. |
| Hypoxic Brain Damage | |
| Generalized Anhidrosis | |
| Butterfly Vertebral Arch | Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. |
| Progressive Forgetfulness | |
| Florid Red Complexion (Finding) | |
| Peripheral Thrombosis | |
| Absent Natural Killer Cells | |
| Impaired Lymphocyte Transformation With Phytohemagglutinin | Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. |
| Partial Iga Deficiency | |
| Charcot-Marie-Tooth Disease | |
| Abnormal Morphology Of Right Ventricular Trabeculae | |
| Wide Qrs Complex | |
| Abnormality Of Hair Pigmentation | An abnormality of hair pigmentation (color). |
| Chromosome 17P Deletion Syndrome | |
| Conspicuously Happy Disposition | An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. |
| Pear-Shaped Nose | |
| Ectopic Thyroid Tissue (Disorder) | |
| Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria | |
| Polymyoclonus | |
| Low Csf 5-Methyltetrahydrofolate | A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. |
| Intermittent Microsaccadic Pursuits | |
| Unexplained Sudden Death | |
| Long Qt Syndrome | An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). |
| Hyperprostaglandinuria | An increased concentration of prostaglandin in the urine. |
| Increased Serum Prostaglandin E2 | An increased concentration of prostaglandin E2 in the blood. |
| Renal Juxtaglomerular Cell Hypertrophy/Hyperplasia | Increased number and size of the juxtaglomerular cells. |
| Renal Sodium Wasting | An abnormally increased sodium concentration in the urine in the presence of hyponatremia. |
| Retinal Dots | |
| Bidirectional Ventricular Ectopy | |
| Prominent Frontal Sinuses | |
| Short Mandibular Rami | |
| Incisor Macrodontia | Increased size of the incisor tooth. |
| Abnormality Of The Renal Collecting System | An abnormality of the renal collecting system. |
| Perinatal Death | |
| Bite Cell Count (Procedure) | |
| Finding Of Bite Cells | |
| Large Nostrils | |
| Other Specified Conduction Disorders | |
| Pituitary Hormone Deficiency | |
| Simple Partial Seizures | |
| Underdeveloped Antitragus | Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. |
| Focal Eeg Discharges With Secondary Generalization | |
| Geniospasm 1 | |
| Progressive Truncal Ataxia | |
| Anoperineal Fistula | The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. |
| Prominent Eyelashes | |
| Vascular Endothelial Growth Factor Receptor 2 Measurement | |
| Nerve Growth Factor Measurement | |
| Dolichocephalic | |
| Kinked Brainstem | |
| Folic Acid Measurement, Rbc | |
| Melanonychia | |
| Intrauterine Growth Restriction (Iugr) | |
| Ureteral Hypoplasia | |
| Cerebellar Atrophy | Atrophy (wasting) of the cerebellum. |
| Developmental Delay, Mild | |
| Painless Fractures Due To Injury | An increased tendency to fractures following trauma, with fractures occurring without pain. |
| Elevated Urinary Homovanillic Acid | An increased concentration of homovanillic acid in the urine. |
| Elevated Urinary Vanillylmandelic Acid | An increased concentration of vanillylmandelic acid in the urine. |
| Compensatory Chin Elevation | A tendency to hold the child elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. |
| Fibrosis Of Extraocular Muscles | |
| Levator Palpebrae Superioris Atrophy | Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. |
| Restrictive External Ophthalmoplegia | Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. |
| Superior Rectus Atrophy | Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. |
| Caudal Interpedicular Narrowing | Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. |
| Delayed Patellar Ossification | Formation of bone in the patella later than normal. |
| Delayed Phalangeal Epiphyseal Ossification | Delay in the process of formation and maturation of the epiphysis of one or more phalanx. |
| Posterior Scalloping Of Vertebral Bodies | An excessive concavity of the posterior surface of one or more vertebral bodies. |
| Slender Distal Phalanx Of Finger | Reduced diameter of the distal phalanx of finger. |
| Streaky Metaphyseal Sclerosis | The presence of streaks (bands) of abnormally increased density of metaphyseal bone. |
| Abnormal Cellular Phenotype | |
| Abnormal Proerythroblast Morphology | any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells |
| Increased Total Iron Binding Capacity | |
| Cleft Palate | An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. |
| Spastic Paraparetic Gait | |
| Pulmonary Valve Defects | |
| Male Puberty | |
| Profuse Pigmented Skin Lesions | |
| Progressive Hyperpigmentation | |
| In(Lu) Phenotype (Finding) | |
| Locked-In Syndrome | |
| Amyotrophy Of Ankle Musculature | Atrophy of the muscles of the ankle. |
| Kallikrein, Decreased Urinary Activity Of | |
| Cancer, Benign | |
| Penile Swelling | |
| Fast-Growing Nails | |
| Hypertrichosis | |
| Bronchial Isomerism | |
| Large Adenoids | |
| Mildly Elevated Creatine Phosphokinase | |
| Progressive Choreoathetosis | |
| Upper Limb Muscle Hypertrophy | |
| Abnormality Of Skull Size | Any abnormality of the size of the skull. |
| Metopic Ridge | |
| Soiling | |
| Acute Edema | |
| Neck Swelling | |
| Delayed Female Puberty | |
| Dilated Aortic Root | |
| Red Hair | |
| Veins/Lymphatics | |
| Hepatic Vascular Malformations | |
| Retinal Vascular Malformation | |
| Ichthyosis | An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. |
| Penile Warts | |
| Hyperparakeratosis | |
| Reticulate Pigmentation Of Oral Mucosa | |
| Skin Fragility With Non-Scarring Blistering | |
| Tongue Biting | |
| Increased Level Of Propylene Glycol In Blood | |
| Bilateral Testicular Swelling By History (Symptom) | |
| Infection In The Elderly | |
| Discrete 2 To 5-Mm Hyper- And Hypopigmented Macules | |
| Mottled Pigmentation Of The Trunk And Proximal Extremities | |
| Chapping Of Lips | |
| Pseudofolliculitis Barbae, Susceptibility To | |
| Hydroxykynureninuria | |
| Aphasia | A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. |
| Charcot Gait | |
| Dejerine-Lichtheim Phenomenon | |
| Gait Disorder, Sensorimotor | |
| Gait, Athetotic | |
| Gait, Broadened | |
| Gait, Festinating | |
| Gait, Frontal | |
| Gait, Hemiplegic | |
| Gait, Hysterical | |
| Gait, Rigid | |
| Gait, Stumbling | |
| Gait, Widebased | |
| Interhemispheric Cysts | |
| Marche A Petit Pas | |
| Rapid Fatigue Of Gait | |
| Severe Demyelination Of The White Matter | A severe loss of myelin from nerve fibers in the central nervous system. |
| Absent Muscle Fiber Merosin | |
| Intercostal Muscle Weakness | Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. |
| Recurrent Loss Of Toenails And Fingernails | Recurrent loss, or shedding, of the nails of the fingers and toes. |
| Familial Mesangial Sclerosis | |
| Microcoria | |
| Generalized Microdontia | |
| Abnormality Of The Orbital Region | |
| Anterior Rib Punctate Calcifications | Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. |
| Patchy Variation In Bone Mineral Density | Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. |
| Pseudo Pelger-Huet Anomaly | |
| Severe Hydrops Fetalis | |
| Sternal Punctate Calcifications | |
| Decreased Small Intestinal Mucosa Lactase Activity | |
| Lactase Deficiency, Congenital | |
| Early-Onset Coronary Artery Disease | |
| Retrosternal Pain | |
| Secondary Hyperlipidemia | |
| Body Weight Changes | disease cluster belonging to disease group metabolic |
| Aphasic | |
| Focal Sensory Auditory Seizure | |
| Internally Rotated Shoulders | |
| Limited Elbow Extension And Supination | |
| Hypothalamic Luteinizing Hormone-Releasing Hormone Deficiency | |
| Abnormal Metaphyseal Trabeculation | An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. |
| Metaphyseal Rarefaction | Reduction in density of metaphyseal bony tissue. |
| Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 | |
| Bone-Marrow Foam Cells | The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. |
| Increased Adipose Tissue Around The Neck | An increased amount of subcutaneous fat tissue around the neck. |
| Abnormality Of The Scaphoid | |
| Abnormality Of The Trapezium | |
| Absent Forearm | |
| Absent Metatarsal Bone | A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. |
| Aplasia Of Metacarpal Bones | Developmental defect associated with absence of one or more metacarpal bones. |
| Aplasia Of The Phalanges Of The Hand | Absence of one or more of the phalanges of the hand. |
| Aplasia Of The Tarsal Bones | Absence of the tarsal bones. |
| Carpal Bone Aplasia | Congenital absence of a carpal bone. |
| Deviation Of The Hand Or Of Fingers Of The Hand | Displacement of the hand or of fingers of the hand from their normal position. |
| Fibular Duplication | Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. |
| Lower Limb Peromelia | Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. |
| Bone Marrow Megaloblastic (Finding) | |
| Decreased Methionine Synthase Activity | A reduction in methionine synthase activity. |
| Decreased Methylcobalamin | Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. |
| Abnormal Atrioventricular Conduction | |
| Abnormal Electrophysiology Of Sinoatrial Node Origin | An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. |
| Abnormal Hair Whorl | An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). |
| Abnormal Lymphocyte Physiology | any functional anomaly of any of the white blood cells that includes B cells, T cells, and NK cells |
| Abnormality Of Circulating Leptin Level | An abnormal concentration of leptin in the blood. |
| Aplasia Of The Phalanges Of The 3Rd Toe | |
| Distal Acroosteolysis | |
| Enlarged Peripheral Nerve | Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. |
| Epidermal Hyperkeratosis | |
| Increased Facial Adipose Tissue | An increased amount of subcutaneous fat tissue in the face. |
| Increased Intramuscular Fat | An abnormal increase in the amount of intramuscular fat tissue. |
| Labial Pseudohypertrophy | |
| Large Placenta | Increased size of the placenta. |
| Loss Of Truncal Subcutaneous Adipose Tissue | Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. |
| Minimal Subcutaneous Fat | |
| Peroneal Muscle Weakness | Weakness of the peroneal muscles. |
| Pinched Nasal Tip | |
| Proximal Upper Limb Muscle Hypertrophy | |
| Short Cord | |
| Decreased Sweating Due To Autonomic Dysfunction | |
| Diffuse Leukoencephalopathy | |
| Loss Of Subcutaneous Adipose Tissue From Upper Limbs | |
| Progressive Loss Of Facial Adipose Tissue | |
| Absence Of Pectoralis Minor Muscle | Aplasia (congenital absence) of the pectoralis minor. |
| Biceps Aplasia | Absence of the biceps muscle. |
| Disproportionate Prominence Of The Femoral Medial Condyle | |
| Glenoid Fossa Hypoplasia | Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. |
| Iliac Crest Spur | |
| Lester'S Sign | A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. |
| Quadriceps Aplasia | Absence of the quadriceps muscle. |
| Thickening Of The Lateral Border Of The Scapula | |
| Triceps Aplasia | Absence of the triceps muscle. |
| Viral Leukemogenesis | |
| Asymmetry Of Intraocular Pressure | |
| Exfoliation Syndrome, Susceptibility To | |
| Iris Hypoperfusion | |
| Pigment Deposition In The Trabecular Meshwork | |
| Pseudoexfoliation | |
| Hypolipoproteinemias | |
| Sense Of Smell Altered | |
| Elevated Apolipoprotein A-Ii Level | |
| Elevated Apolipoprotein B Level | |
| Hyperlipidemia, Familial Combined, Susceptibility To | |
| Lactescent Serum | |
| Lipoprotein Lipase (Olbia) Phenotype | |
| Lpl-Arita Phenotype | |
| Abnormal Perifollicular Morphology | |
| Sunken Cheeks | Lack or loss of the soft tissues between the zygomata and mandible. |
| Bowing Of Vocal Cord | |
| Aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death (GO:0016265) and may succeed developmental maturation (GO:0021700). |
| Disease Recurrence | The recurrence of a disease after treatment |
| Extrapyramidal Dysarthria | |
| Positive Myoclonus | |
| Abnormality Of The Femoral Neck Or Head Region | |
| Clavicular Sclerosis | An increase in bone density within the clavicle. |
| High Bone Mass | |
| Metacarpal Diaphyseal Endosteal Sclerosis | Increase in bone denisty in the diaphyseal (shaft) region of a metacarpal bone. |
| Metatarsal Diaphyseal Endosteal Sclerosis | Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. |
| Sclerotic Vertebral Body | |
| Torus Palatinus | A bony protrusion present on the midline of the hard palate. |
| Visual Acuity Light Perception With Projection | |
| Lightheadedness | |
| Leprosy | A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid. |
| Blanching | |
| Hemivertebra Fusion Or Failure Of Segmentation With Scoliosis | |
| Magnesium Measurement | |
| Malignant Mixed Tumor | |
| Chediak-Higashi Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Deep Dyslexia | |
| Abnormal Location Of Ears | Abnormal location of the ear. |
| Left Ventricular Septal Hypertrophy | |
| Laterally Extended Eyebrow | |
| Carpal Osteolysis | Osteolysis affecting carpal bones. |
| Impaired Ocular Abduction | An impaired ability of the eye to move in the outward direction (towards the side of the head). |
| Impaired Ocular Adduction | Reduced ability to move the eye in the direction of the nose. |
| Metacarpal Osteolysis | |
| Metatarsal Osteolysis | Osteolysis involving metatarsal bones. |
| Osteolysis Involving Tarsal Bones | An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. |
| Palpebral Fissure Narrowing On Adduction | |
| Wrist Swelling | |
| Abnormal Pupillary Light Reflex | An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. |
| Abnormality Of Inferior Oblique Extraocular Muscle | |
| Congenital Overgrowth Of Lower Limb | |
| Cicatricial Stenosis | |
| Fibrous Stenosis | |
| Stricture Obstruction | |
| Facial Dysmorphism, Mild | |
| Osteoprotegerin Test | |
| Abnormal Position Of Hair Whorl | |
| Long Eyebrows | Increased length of the hairs of the eyebrows. |
| Underdeveloped Nasolabial Fold | |
| Increased Urinary Disaccharide Excretion | Increased concentration of disaccharide in the urine. |
| Adult Antisocial Behavior | |
| Aggressive Personality | |
| Antisocial Behavior, Susceptibility To | |
| Child Neglect Behavior | |
| Dyssocial Behavior | |
| Coarse Features | |
| Forney Robinson Pascoe Syndrome | |
| Eeg With Parietal Focal Spikes | |
| Bacteremia, Susceptibility To, 2 | |
| Susceptibility To Tuberculosis | disease cluster belonging to disease group infection |
| Axial Muscle Stiffness | |
| Conjunctival Hyperemia | |
| Diminished Movement | |
| Fixed Facial Expression | |
| Freezing Of Gait | |
| Frontolimbic Dementia | |
| Granulovacuolar Degeneration | Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. |
| Progressive Extrapyramidal Muscular Rigidity | |
| Tachylalia | |
| Verbal Repetition | |
| Single Interphalangeal Crease Of Fifth Finger | Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. |
| Dysplastic Iliac Wings | |
| Osteoarthritis | A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. |
| Temporomandibular Joint Internal Derangement | |
| Abnormality Of The Extraocular Muscles | An abnormality of an extraocular muscle. |
| Imperfect Vocal Cord Adduction | |
| Crush Syndrome | |
| Rigidity Of Limbs | |
| Tissue Anoxia | |
| Lower Eyelid Entropion | |
| Clinical Sepsis | |
| Fissure In Skin | |
| Ifap Syndrome | |
| Pachyonychia | |
| Perifollicular Fibrosis | Presence of excess fibrous connective tissue surrounding hair follicules. |
| Thin Fingernail | |
| Unilateral Chest Hypoplasia | |
| Oculocutaneous Albinism, Type Ii, Modifier Of | |
| Pigmentation | The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. |
| Uv-Induced Skin Damage, Susceptibility To | |
| Abnormality Of Circulating Adrenocorticotropin Level | An abnormal concentration of corticotropin in the blood. |
| Decreased Circulating Dehydroepiandrosterone Level | |
| Impaired Cortisol Response To Insulin Stimulation Test | |
| Indifference To Pain | |
| Tongue Symptoms | |
| Ecog Performance Status 1 | |
| Mild Adverse Event | |
| Neck Pain Score 1 | |
| Anti-Mullerian Hormone Measurement | |
| Abnormality Of Mucopolysaccharide Metabolism | An abnormality of the metabolism of mucopolysaccharide. |
| Hypergastrinemia | |
| Increased Rate Of Premature Chromosome Condensation | An increased rate of premature chromosome condensation. |
| Low 1-Minute Apgar Score | |
| Blood Viscosity | The internal resistance of the BLOOD to shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such as SICKLE CELL ANEMIA andPOLYCYTHEMIA. |
| Peptidylamidoglycolate Lyase Activity | Catalysis of the reaction: peptidylamidoglycolate = peptidyl amide + glyoxylate. |
| Accelerated Tumor Formation, Susceptibility To | |
| Chromosome Xq28 Duplication Syndrome | |
| Episodic Hypoventilation | |
| Hand-Wringing | |
| Hostility | |
| Impaired Use Of Nonverbal Behaviors | Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures. |
| Inflexible Adherence To Routines Or Rituals | |
| Irregular Breathing | |
| Lack Of Peer Relationships | |
| Maternal Anticardiolipin Antibody Positive | |
| Mirror Writing | |
| Skewed Maternal X Inactivation | |
| Frontal Lobe Atrophy | |
| Abdomen, Acute | |
| Abnormality Of The Anterior Fontanelle | An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. |
| Adrenal Adenoma, Somatic | |
| Klippel-Feil Anomaly | |
| Osteofibrous Dysplasia, Susceptibility To | |
| Foot Pain | |
| Foveoschisis | Splitting of the retinal layers in the macula. |
| Scleral Thickening | |
| Sensory Perception Of Bitter Taste | The series of events required to receive a bitter taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| Response To Temozolomide | |
| Calcification Of The Auricular Cartilage | Ossification affecting the external ear cartilage. |
| Cartilaginous Ossification Of Larynx | Ossification affecting the set of cartilages of larynx. |
| Cartilaginous Ossification Of Nose | |
| Costal Cartilage Calcification | Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. |
| Premature Fusion Of Phalangeal Epiphyses | Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. |
| Central Core Regions In Muscle Fibers | |
| Persistent Lactic Acidosis | |
| Albinism, Yellow-Mutant | |
| Transverse Vaginal Septum | |
| Elevated Amniotic Fluid Alpha-Fetoprotein | An elevation of alpha-feto protein measured in the amniotic fluid. |
| Axillary Freckling | The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| Large Clumps Of Pigment Irregularly Distributed Along Hair Shaft | |
| Sucrose Intolerance | |
| Decreased Methylmalonyl-Coa Mutase Activity | An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. |
| Elevated Propionylcarnitine Level | |
| Hypomethioninemia | A decreased concentration of methionine in the blood. |
| Flared, Irregular Rib Ends | |
| Irregular Sclerotic Endplates | |
| Pear-Shaped Vertebrae | Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. |
| Progressive Leg Bowing | |
| Osteolysis Involving Bones Of The Upper Limbs | |
| Sclerotic Cranial Sutures | An increased density in the cranial sutures following obliteration. |
| Acute Ischemic Colitis | |
| Interphalangeal Joint Erosions | |
| Peripheral Opacity Of Cornea | |
| Prolapsed Cervical Intervertebral Disc | |
| Swelling Of Finger | |
| Thin Metacarpal Cortices | |
| Thin Metatarsal Cortices | |
| Uterine Hemorrhage | presence of bleeding in the uterus; often in response to failed pregnancy |
| Widened Metacarpal Shaft | |
| Cytotoxic Brain Edema | |
| Cytotoxic Cerebral Edema | |
| Paraseptal Emphysema | |
| Vasogenic Brain Edema | |
| Vasogenic Cerebral Edema | |
| Anterior Sacral Meningocele | |
| Gastrointestinal Obstruction | |
| Pathognomonic Sign | |
| Absent Urinary Urothione | Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. |
| Decreased Urinary Sulfate | Decreased concentration of sulfate in the urine. |
| Decreased Urinary Urate | Decreased concentration of urate in the urine. |
| Increased Urinary Hypoxanthine | An increased level of hypoxanthine in the urine. |
| Increased Urinary Sulfite | Increased concentration of sulfate in the urine. |
| Increased Urinary Thiosulfate | Increased concentration of thiosulfate(2-) in the urine. |
| Reduced Xanthine Dehydrogenase Activity | |
| Xanthine Nephrolithiasis | The presence of xanthine-containing calculi (stones) in the kidneys. |
| Abnormal Hypothalamus Physiology | An abnormal functionality of the hypothalamus. |
| Focal T2 Hyperintense Thalamic Lesion | |
| Unable To Concentrate | |
| Obsolete Hypopigmented Fundi | |
| Urticarial Vasculitis | |
| Decreased Distal Sensory Nerve Action Potential | A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. |
| Cold-Induced Muscle Cramps | Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. |
| Myelin Outfoldings | The presence of excessive redundant myelin in the peripheral nerve sheath. |
| Radiating Back Pain | |
| Tonic Pupil | An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. |
| Trauma Symptoms | |
| Enlarged Interhemispheric Fissure | |
| Increased Sensitivity To Ionizing Radiation | An abnormally increased sensitivity to the effects of ionizing radiation. |
| Aciduria | Ecretion of urine with an acid pH. |
| Antenatal Onset | |
| Mild Thrombocytopenia | |
| Atopic Asthma, Susceptibility To | |
| Nasopharyngeal Carcinoma | |
| Microdontia Of Primary Teeth | Decreased size of the primary teeth. |
| Infusion-Related Reaction | |
| Metaphyseal Striations | |
| Patchy Osteosclerosis | Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. |
| Bilateral Striatal Necrosis | |
| Cardiac Conduction Defects | |
| Headache In Children | |
| Posterior Cerebral Artery Occlusion | |
| Intermittent Fever | |
| Reduced Brain Choline Level By Mrs | |
| Myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| Claw-Shaped Deformity | |
| Extraversion (Psychology) | |
| Delayed Ability To Sit | |
| Delayed Ability To Stand | |
| Ectopic Tissue | |
| Extra-Axial Cerebrospinal Fluid Accumulation | |
| Irregular Hyperpigmentation Of Back | |
| Movement Abnormality Of The Tongue | |
| Impaired Renal Uric Acid Clearance | A reduction in the ability of the kidneys to remove uric acid from the serum. |
| Solid Carcinoma | |
| Tubular Basement Membrane Disintegration | DIsruption and breaking up of the basement membrane of the tubules of the kidney. |
| Abiotrophy | |
| Human Immunodeficiency Virus | |
| Fluctuating Hepatomegaly | Intermittently increased size of the liver. |
| Fluctuating Splenomegaly | Intermittently increased size of the spleen. |
| Morbilliform Rash | An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. |
| Neutrophilia | |
| Neonatal Inspiratory Stridor | |
| Abnormal Iris Pigmentation | Abnormal pigmentation of the iris. |
| Mitochondrial Swelling | |
| Chin With H-Shaped Crease | H-shaped crease in the fat pad of the chin. |
| Finger Contracture | |
| Whistling Appearance | An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. |
| Abnormality Of Cellular Immune System | An abnormality of the morphology or counts of the cells that make up the immune system. |
| Electrocardiogram - Left Anterior Hemiblock | |
| Limitation Of Movement At Ankles | |
| Limited Neck Flexion | |
| Scapuloperoneal Amyotrophy | Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. |
| Weakness Of Orbicularis Oculi Muscle | |
| Increased Susceptibility To Schizophrenia | |
| Leukocyte Inclusion Bodies | |
| Neutrophil Inclusion Bodies | The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. |
| Pectoralis Hypoplasia | Underdevelopment of the pectoral muscle. |
| Accumulation Of Melanosomes In Melanocytes | |
| Melanin Pigment Aggregation In Hair Shafts | |
| Absent Vestibular Function | Complete lack of functioning of the vestibular apparatus. |
| Childhood Onset Sensorineural Hearing Impairment | Sensorineural hearing impairment with childhood onset. |
| Moderate Hearing Impairment | |
| Celiac Disease | A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
| Abnormal Muscle Fiber Myotilin | |
| Limited Elbow Flexion | |
| Loss Of Ability To Walk In First Decade | |
| Reduced Maximal Inspiratory Pressure | |
| Bland White Garland Syndrome | |
| Hepatopulmonary Fusion | |
| Palpebral Thickening | |
| Aniseikonia | |
| Reduced C-Peptide Level | |
| Echogenic Intracardiac Focus | |
| Absent Kidney | |
| Increased Urinary O-Linked Sialopeptides | Excretion of peptides conjugated to sialic acid in the urine. |
| White Mater Abnormalities In The Posterior Periventricular Region | |
| Increased Level Of L-Glutamic Acid In Blood | |
| Chin With Horizontal Crease | Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. |
| Abnormal Male Germ Cell Morphology | A structural anomaly of a male reproductive cell. |
| Tocophobia | |
| Leucine Measurement | |
| Nonprogressive Visual Loss | |
| Impaired Thrombin-Induced Platelet Aggregation | Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). |
| Reduced Quantity Of Von Willebrand Factor | Decreased quantity of von Willebrand factor. |
| Reduced Von Willebrand Factor Activity | Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. |
| Unrest | |
| Progressive Vitiligo | |
| Macrognathia | |
| Hyperlaxity | |
| Dull Pain | |
| Mitochondrial Complex I Deficiency | |
| Abnormal Dura Mater Morphology | |
| Dysgenesis Of The Thalamus | |
| Infantile Sensorineural Hearing Impairment | A form of sensorineural hearing impairment with infantile onset. |
| Thalamic Edema | |
| Aplasia/Hypoplasia Of The Lens | Absence or underdevelopment of the lens. |
| Intraretinal Exudate | Retinal exudate within the retinal tissue itself. |
| Peripheral Vitreous Opacities | |
| Subretinal Exudate | A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. |
| Intraaxonal Accumulation Of Curvilinear Autofluorescent Lipopigment Storage Material | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. |
| Diastolic Dysfunction | |
| Sudden Visual Loss | |
| Mitochondrial Depletion | |
| Progressive Hypotrichosis | Progressively reduced or lacking hair growth. |
| Clusters Of Axonal Regeneration | Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. |
| Complete Duplication Of Hallux Phalanx | |
| Disproportionate Shortening Of The Tibia | |
| Shortening Of The Tibia | |
| Mild Splenomegaly | |
| Hydrops Fetalis (Type Ii, Congenital) | |
| Urinary Excretion Of Sialylated Oligosaccharides | Excretion of oligosaccharides conjugated to sialic acid in the urine. |
| Inguinal Freckling | The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| Lisch Nodules | The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. |
| Abnormal Kinetic Perimetry Test | |
| Abnormality Of Central Sensory Function | |
| Chromosomal Breakage Induced By Ionizing Radiation | Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. |
| Ear Pain, Ctcae | |
| Focal T2 Hypointense Thalamic Lesion | |
| Juvenile Posterior Subcapsular Lenticular Opacities | |
| Meningioma, Familial, Susceptibility To | |
| Progressive Pulmonary Function Impairment | |
| Schwannomatosis | |
| Unilateral Vestibular Schwannoma | A unilateral vestibular Schwannoma (acoustic neurinoma). |
| Visual Acuity Test Abnormality | |
| Weak Extraocular Muscles | |
| Low Cardiac Output | |
| Distal Ulnar Hypoplasia | Underdevelopment of the distal portion of the ulna. |
| Distal Widening Of Metacarpals | Abnormal increase in width of the distal region of the metacarpal bones. |
| Large Sternal Ossification Centers | |
| Enteroviral Encephalomyelitis | |
| Recurrent Pharyngitis | An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. |
| Defective Production Of Nfkb1-Dependent Cytokines | |
| Decreased Number Of Small Peripheral Myelinated Nerve Fibers | |
| Deep Pain | |
| Astasia | |
| Decreased Csf 5-Hydroxyindolacetic Acid | |
| Decreased Csf Biopterin Level | |
| Decreased Csf Protein | |
| Decreased Csf/Serum Albumin Ratio | |
| Fatigable Weakness Of Speech Muscles | |
| High Myoinositol In Brain By Mrs | |
| Impaired Oral Bolus Formation | |
| Reduced Brain Glutamine Level By Mrs | |
| Sucking Reflex | |
| Appendiceal Stump | |
| Screwdriver-Shaped Incisors | An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. |
| Abnormal Incisura Morphology | |
| Bilateral Clinodactyly | |
| Distorted Hearing | |
| Dysacusis | |
| Long Curly Eyelashes | |
| Long, Smooth Philtrum | |
| Paracousis | |
| Choreoathetosis | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| Genitourinary Symptoms | |
| Impaired Ability To Form Peer Relationships | |
| Lower Abdominal Pain | |
| Absent/Shortened Outer Dynein Arms | |
| Crohn Disease-Associated Growth Failure, Susceptibility To (Finding) | |
| Intermittent Generalized Erythematous Papular Rash | |
| Absent Distal Phalanges | Aplasia (absence) of the distal phalanges. |
| Absent Phalangeal Crease | Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). |
| Congenital Stapes Ankylosis | A form of stapes ankylosis with congenital onset. |
| Fusion Of Midphalangeal Joints | |
| Progressive Fusion 2Nd-5Th Pip Joints | |
| Synostosis Involving The 1St Metacarpal | |
| Respiratory Allergy | |
| P Pulmonale By Ekg (Finding) | |
| Cervical Instability | |
| Crowded Carpal Bones | |
| Elongated Sella Turcica | |
| Partial Absence Of Toe | |
| Tall Lumbar Vertebral Bodies | |
| Hemiparaesthesia | |
| Short Nasal Bridge | |
| Foam Cells In Visceral Organs And Cns | |
| Atrial Standstill | |
| Cardiac Output, High | |
| Lower Thoracic Kyphosis | Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. |
| Thoracolumbar Interpediculate Narrowness | A reduction of the distance between thoracolumbar vertebral pedicles. |
| Food Allergy In Children | |
| Newborn Physiological Jaundice | |
| Body Composition, Beneficial | |
| Glucocorticoid Resistance, Cellular | |
| Serum Testosterone Level Abnormal | |
| Cryptozoospermia | |
| Neurocutaneous Melanosis | |
| Neurocutaneous Melanosis, Somatic | |
| Numerous Congenital Melanocytic Nevi | |
| Temperament | |
| Sparse Anterior Scalp Hair | |
| Alanine Aminotransferase Increased | |
| Ear Symptom | |
| Purulent Rhinitis | |
| Feeding Behaviors | |
| Anti-Multiple Nuclear Dots Antibody Positivity | |
| Light Complexion | |
| Interleukin 25 Measurement | |
| Chorioretinal Hyperpigmentation | |
| Dense Posterior Cortical Cataract | A type of posterior cortical cataract characterized by dense lenticular opacities. |
| Febrile Proteinuria | |
| Hypomineralized Amelogenesis Imperfecta | |
| Abnormal Amplitude Of Pattern Reversal Visual Evoked Potentials | |
| Adductor Longus Contractures | |
| Glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| Anterior Cortical Cataract | |
| Deviation Of The 2Nd Finger | Displacement of the 2nd finger from its normal position. |
| Limited Wrist Movement | An abnormal limitation of the mobility of the wrist. |
| Posterior Cortical Cataract | A cataract that affects the posterior part of the cortex of the lens. |
| Disorganization Of The Anterior Cerebellar Vermis | |
| Intellectual Disability | A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. |
| Abnormal Light-Adapted Electroretinogram | |
| Altered Bowel Function | |
| Painful Scar | |
| C3Hex, Ability To Smell | |
| Cramping Sensation Quality | |
| Absent Glenoid Fossa | Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. |
| Decreased Osteoclast Count | |
| Abnormality Of Ornithine Metabolism | Abnormality of a metabolism or concentration of ornithine. |
| Absent Brainstem Auditory Responses | Lack of measurable response to stimulation of auditory evoked potentials. |
| Auditory Neuropathy, Nonsyndromic Recessive | |
| Periprosthetic Osteolysis | |
| Hypertonia | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Refractory Chronic Cough | |
| Unexplained Chronic Cough | |
| Acute Non-St Segment Elevation Myocardial Infarction (Disorder) | |
| Other Specified Hemorrhagic Conditions | |
| Collagen Overmodification | |
| Peripheral Vitreoretinal Degeneration | |
| Uncombable Hair | |
| Soluble Transferrin Receptor Measurement | |
| Atypical Hyperphenylalaninemia | |
| Maternal Hyperphenylalaninemia | A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. |
| Phenylpyruvic Acidemia | |
| Reduced Phenylalanine Hydroxylase Activity | A reduction in phenylalanine 4-monooxygenase activity. |
| Physical Aggression | |
| Massive Hepatic Necrosis | |
| Leg Dystonia | |
| Aplasia Of The Vagina | Aplasia of the vagina. |
| Abnormal Best Corrected Visual Acuity Test | |
| Increased Proinsulin:Insulin Ratio | |
| Vasitis | |
| Acute Repetitive Seizure | |
| Impaired Gluconeogenesis | An impairment of gluconeogenesis. |
| Areas Of Hypopigmentation And Hyperpigmentation That Do Not Follow Blaschko Lines | |
| Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities | |
| Water-Electrolyte Imbalance | |
| Caudal Dysgenesis Syndrome | |
| Functional Laterality | Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot. |
| Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1 | |
| Aortopulmonary Collateral Arteries | |
| New Or Worsening Symptom | |
| Acute Zonal Occult Outer Retinopathy | |
| Striatal T2 Hyperintensity | |
| Paradoxical Increased Cortisol Secretion On Dexamethasone Suppression Test | |
| Pigmented Micronodular Adrenocortical Disease | |
| Homovanillic Acid Measurement | |
| Intracranial Artery Dissection | |
| Choroidal Ischemia | |
| Gastrointestinal Irritation | |
| Calcification Of The Small Brain Vessels | Deposition of calcium salts within small blood vessels of the brain. |
| Dense Calcifications In The Cerebellar Dentate Nucleus | |
| Hypereosinophilic Syndrome, Idiopathic, Resistant To Imatinib | |
| Choking | |
| Eye Problem | |
| Speech Impairment | |
| Thin Calvarium | |
| Abnormal Brain Choline Level By Mrs | |
| Intermittent Ataxia | |
| Special Senses Disorders | |
| Craniofacial Pain | |
| Abnormality Of The Middle Ear | An abnormality of the middle ear. |
| Diffuse Telangiectasis | |
| Elevated Levels Of Phytanic Acid | An abnormal elevation of phytanic acid. |
| Intrahepatic Biliary Dysgenesis | |
| Ridged Cranial Sutures | |
| Peroxisome Proliferation | |
| Decreased Testosterone In Males | |
| Abnormality Of The Male Genitalia | Abnormality of the male genital system. |
| Stippled Chondral Calcification | |
| Abnormality Of Corneal Thickness | An abnormal anteroposterior thickness of the cornea. |
| Reduced Erythrocyte 2,3-Diphosphoglycerate Concentration | |
| Decreased Hemoglobin Concentration | |
| Reduced Antigen-Specific T Cell Proliferation | |
| Flattening Of The Talar Dome | |
| Shortening Of The Talar Neck | |
| Trapezoidal Distal Femoral Condyles | |
| Scheuermann-Like Vertebral Changes | |
| Generalized Ichthyosis | |
| Hypoglycinemia | An abnormally reduced concentration of glycine in the blood. |
| Hyposerinemia | Reduced concentration of serine in the blood. |
| Yellow Subcutaneous Tissue Covered By Thin, Scaly Skin | |
| Hepatic Glycogen Storage | |
| Hypertropia | |
| Visceral Reflex | |
| Threatened Abortion | |
| Vermis Hypoplasia | |
| Genital Edema | |
| Genital Edema, Ctcae | |
| Increased Red Cell Hemolysis By Shear Stress | |
| Chest Pain On Breathing | |
| Loss Of Proprioception | |
| Abnormal Ear Morphology | any structural anomaly of any of the structures involved in the ear or vestibular system |
| Broad 2Nd Toe | |
| Reduced Granulocyte Cd59 Level | |
| Prominent Superior Crus Of Antihelix | |
| Prominent Tragus | |
| Rectovestibular Fistula | |
| Thin Lower Lip Vermilion | |
| Vertical Forehead Creases | |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic | |
| Sciatic Nerve Pain | |
| Decreased Proportion Of Class-Switched Memory B Cells | |
| Increased Proportion Of Transitional B Cells | |
| Specific Pneumococcal Antibody Deficiency | |
| Posturing | |
| Radially Deviated Wrists | |
| Abnormality Of The Corneal Limbus | |
| Abnormally Prominent Line Of Schwalbe | |
| Hepatic Hypertrophy | |
| Oedema Vascular | |
| Unbalanced Atrioventricular Canal Defect | |
| Reduced Red Cell Pyruvate Kinase Activity | |
| Aborted Sudden Cardiac Death | |
| Decreased Serum Thromboxane B2 | |
| Cerebellar Gliosis | |
| Hip Stiff | |
| Optic Nerve Pallor | |
| T2 Hypointense Basal Ganglia | |
| Increased Level Of Platelet-Activating Factor | |
| Corkscrewing | |
| Embolus | |
| Hemopericardium | A pericardial effusion that results from blood in the pericardial sac. |
| Low Back Pain, Posterior Compartment | |
| Low Back Pain, Postural | |
| Recurrent Deep Vein Thrombosis | Repeated episodes of the formation of a blot clot in a deep vein. |
| Recurrent Low Back Pain | |
| Vertebrogenic Pain Syndrome | |
| Impaired Epinephrine-Induced Platelet Aggregation | Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. |
| Nail Disorder | |
| Urethral Diverticulum | |
| Axial Muscle Atrophy | |
| Dense Metaphyseal Bands | Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. |
| Decreased Level Of Plasminogen | |
| Reduction Of Oligodendroglia | |
| Anterior Segment Ischemia | |
| Macular Detachment | |
| Sperm Mid-Piece Anomaly | |
| Impaired Antigen-Specific Response | |
| Impaired Neutrophil Chemotaxis | defect in the movement of neutrophils guided by a specific chemical concentration gradient |
| Reduced Thyroxin-Binding Globulin | An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. |
| Flaccid Quadriplegia | |
| Paralysis, Spinal, Quadriplegic | |
| Spontaneous Pain Sensation | |
| Other Dystonia | |
| Paroxysmal Choreoathetosis | Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. |
| Dna Repair-Deficiency | |
| Abnormality Of B Cell Physiology | An abnormality of the physiological functioning of B cells. |
| Low Apgar Score | |
| Elevated Csf Neopterin Level | |
| Generalized Reticulate Brown Pigmentation | |
| Paralysis, Unilateral, Vocal Cord | |
| Syphilis | A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. |
| Abnormal Morphology Of The Cerebellar Cortex | |
| Abnormality Of Central Motor Conduction | |
| Atrophic Muscularis Propria | |
| Atrophy/Degeneration Involving The Spinal Cord | |
| Cerebral Cortical Neurodegeneration | |
| Decreased Urinary Copper Concentration | |
| Multiple Mitochondrial Dna Deletions | The presence of multiple deletions of mitochondrial DNA (mtDNA). |
| Coloboma Of Inferior Eyelid | |
| Morphological Abnormality Of The Inner Ear | A structural anomaly of the internal part of the ear. |
| Atlantoaxial Abnormality | An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. |
| Increased Estradiol Level | |
| Increased Subcutaneous Truncal Adipose Tissue | |
| Cerebellar Hypoplasia With Endosteal Sclerosis | |
| Facial Palsy | |
| Hemifacial Paralysis | |
| Increased Libido | |
| Enlarged Flash Visual Evoked Potentials | |
| Abnormal Esophagus Morphology | any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach |
| Decreased Proportion Of Naive B Cells | |
| Increased Iga Level | An abnormally increased level of immunoglobulin A in blood. |
| Increased Igg Level | An abnormally increased level of immunoglobulin G in blood. |
| Increased Igm Level | An abnormally increased level of immunoglobulin M in blood. |
| Increased Proportion Of Memory B Cells | |
| Linear Arrays Of Macular Hyperkeratoses In Flexural Areas | |
| Left Ventricular Systolic Dysfunction | |
| Enzyme Activity Finding | |
| Paraoxonase Activity | disease cluster belonging to disease group normalvariation |
| Unwell | |
| Midclavicular Aplasia | Developmental defect resulting in congenital absence of the middle portion of the clavicle. |
| Ayazi Syndrome | |
| Cervical Abnormality | |
| Hyperalphalipoproteinemia | An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. |
| Body Mass Index, Modifier Of | |
| Diabetes Mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| Increased Carotid Artery Intimal Medial Thickness | An increase in the combined thickness of the intima and media of the carotid artery. |
| Intimal Medial Thickness Of Internal Carotid Artery, Modifier Of | |
| Passive Cutaneous Anaphylaxis | |
| Tongue Pigmentation | |
| Tremor By Anatomical Site | Tremor classified by the affected body part. |
| Premenstrual Symptom | |
| Prb3S(Cys) | |
| Postoperative Atelectasis | |
| Pre-Ictal Amnesia | |
| Pre-Ictal Memory Loss | |
| Retrograde Memory Loss | |
| Biotin-[Acetyl-Coa-Carboxylase] Ligase Activity | Catalysis of the reaction: ATP + biotin + apo-(acetyl-CoA:carbon-dioxide ligase (ADP forming)) = AMP + diphosphate + (acetyl-CoA:carbon-dioxide ligase (ADP forming)). |
| Conjunctival Erythema | |
| Serum Urea Measurement | |
| Ventricular Preexcitation With Multiple Accessory Pathways | A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. |
| Glycogen Content In Skeletal Muscle, Increased | |
| Neonatal Epiphyseal Stippling | The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. |
| Thyroid Follicular Hyperplasia | |
| Alpha Carotene Level | |
| Cerebral Infarction, Susceptibility To | |
| Breast Fullness | |
| Infant Irritability | |
| Pathological Gynecomastia | |
| Physiological Sexual Disorders | |
| Creutzfeldt-Jakob Disease, Heidenhain Variant | |
| Eeg With Persistent Abnormal Rhythmic Activity | |
| Poor Visual Behavior For Age | |
| Pupillary Functions, Abnormal | |
| Simultanapraxia | |
| Superficial Thrombophlebitis, Ctcae | |
| Warfarin-Induced Skin Necrosis | |
| Proline Measurement | |
| Hydroxyprolinemia | An increased concentration of hydroxyproline in the blood. |
| Pituitary Enlargement | |
| Acquired Purpura Fulminans | |
| Protein S Heerlen Phenotype | |
| Leber Congenital Amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| Yellow/White Lesions Of The Retina | |
| 1-Minute Apgar Score Of 0 | |
| 5-Minute Apgar Score Of 1 | |
| Aplasia/Hypoplasia Of The Optic Nerve | |
| Nonsyndromic Sensorineural Hearing Loss | |
| Stellate Iris | |
| Structural Brain Abnormalities | |
| Mandibular Retroposition | |
| Maxillary Retroposition | |
| Increased Cerebral Lipofuscin | Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| Bilateral Wrist Flexion Contracture | |
| Optic Ataxia | |
| Abnormal Uvea Morphology | any structural anomaly of the pigmented vascular coat of the eyeball, consisting of the iris, ciliary body, and choroid |
| Anomalous Branches Of Internal Carotid Artery | |
| Fusion Of The Left And Right Thalami | |
| Humeral Cortical Thickening | |
| Irregular Ossification Of Hand Bones | |
| Pits Of Palms And Soles | |
| Progressive Sclerosis Of Skull Base | Progressively increasing bone density of the skull base without significant changes in bony contour. |
| Penile Freckling | |
| Sleep Fragmentation | |
| Prominent Supraorbital Arches In Adult | |
| Abnormality Of Skeletal Maturation | The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. |
| Abnormality Of The Somatic Nervous System | |
| Modic Type Vertebral Endplate Changes | |
| Abnormal Cricoid Cartilage Morphology | any structural anomaly of the most inferior of the laryngeal cartilages |
| Cleft Alveolar Process Of Maxilla | |
| Infancy Onset Short-Trunk Short Stature | |
| Pappenheimer Body (Morphologic Abnormality) | |
| Pappenheimer Body Count (Lab Procedure) | |
| Distress Gastrointestinal | |
| Lateral Displacement Of Patellae | |
| Broad Fingertip | |
| Prominent Antitragus | Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. |
| Slender Ulna | Reduction in diameter of the ??ulna. |
| Abnormal Size Of The Palpebral Fissures | An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. |
| Abnormality Of Neutrophil Physiology | A functional abnormality of neutrophils. |
| Reduction Of Neutrophil Motility | An abnormal reduction of the cell motility of neutrophils. |
| Pointed Helix | |
| Abnormal B Cell Count | |
| Abnormal Natural Killer Cell Count | |
| Abnormal T Cell Count | |
| 17P11.2 Monosomy | |
| Alpha-Eeg | |
| Beta-Eeg | |
| Eeg With Focal Epileptiform Discharges | EEG discharges recorded in particular areas of the A localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| Menstrual Symptoms | |
| Sleep-Wake Inversion | |
| Abnormal Putamen Morphology | any structural anomaly of the lens-shaped basal ganglion involved with control of voluntary movement in the brain |
| Abnormal Visual Fixation | |
| Choroid Hemorrhage | |
| Severe Gastroesophageal Reflux | |
| Response To Ketamine | |
| Abnormal Response To Acth Stimulation Test | |
| Bilateral Radial Aplasia | Missing radius bone on both sides associated with congenital failure of development. |
| Shoulder Muscle Hypoplasia | Underdevelopment of muscles of the shoulder. |
| Bisphosphonate-Associated Osteonecrosis Of The Jaw | |
| Fructosamine Measurement | |
| Forearm Reduction Defects | |
| Hyperconvex Toenail | |
| Response To Bleomycin | |
| Wilms Tumor | |
| Abnormality Of Enteric Ganglion Morphology | |
| Cutaneous Lichen Amyloidosis | |
| Adiadochokinesis | |
| Cerebellar Hemiataxia | |
| Hypermetria (Finding) | |
| Megakaryocyte Dysplasia | |
| Abnormal Mean Corpuscular Volume | deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices |
| Increased Intracellular Sodium | An abnormally increased sodium concentration in the cytosol. |
| Splenomegaly Massive | |
| Rhd Category D-Vii | |
| Rhd, Weak D, Type I | |
| Infra-Orbital Fold | |
| Commissural Lip Pit | A depression located at an oral commissure. |
| Lymphatic Obstruction | |
| Severe Feeding Problems | |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy | |
| Cerebrospinal Fluid Lymphocytosis | |
| Widely Spaced Primary Teeth | |
| Poor Hand-Eye Coordination | |
| Gait Instability, Worse In The Dark | |
| Recombination Rate Quantitative Trait Locus 1 | |
| Stomach Diverticulum | |
| Amelogenesis Imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| Cutaneous Syndactyly Between Fingers 2 And 5 | |
| Distally Placed Thumb | |
| Elbow Stiff | |
| Total Respiratory System Resistance | |
| Neuropathic Pain | |
| Abnormal Multifocal Electroretinogram | |
| Decreased Level Of Erythritol In Csf | |
| Decreased Level Of Erythritol In Urine | |
| Elevated Circulating Ribitol Concentration | |
| Increased Level Of D-Threitol In Csf | |
| Increased Level Of D-Threitol In Plasma | |
| Increased Level Of D-Threitol In Urine | |
| Increased Level Of Ribitol In Csf | |
| Increased Level Of Ribitol In Urine | |
| Increased Level Of Ribose In Csf | |
| Increased Level Of Ribose In Urine | |
| Increased Level Of Xylitol In Csf | |
| Increased Level Of Xylitol In Urine | |
| Small Hypothenar Eminence | Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. |
| Elevated Red Cell Adenosine Deaminase Activity | |
| Absent Thumb, Bilateral | |
| Abnormality Of Bone Marrow Stromal Cells | |
| Megakaryocyte Nucleus Hypolobulation | |
| Ankle Stiff | |
| Bifid Thoracic Vertebrae | |
| Mild Radial Hypoplasia | |
| Abnormal Upper To Lower Segment Ratio | A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. |
| Abnormality Of The Nasal Alae | An abnormality of the Ala of nose. |
| Drumstick Terminal Phalanges | Rounding and broadening of the tufts of the distal phalanges. |
| Lumbar Kyphosis | Over curvature of the lumbar region. |
| Thick Nasal Septum | Abnormally increased thickness of the nasal septum. |
| Mizuo Phenomenon | |
| Peripheral Cystoid Retinal Degeneration | |
| Visual Impairment And Blindness (Excl Colour Blindness) | |
| Abnormal Central Microtubular Pair Morphology Of Respiratory Motile Cilia | A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. |
| Reduced Exercise Tolerance | |
| Underweight | |
| Sacrococcygeal Pilonidal Abnormality | The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. |
| Thin Ear Helix | |
| Abnormal Alpha Granule Content | |
| Abnormal Dense Granule Content | |
| Hypercellular Bone Marrow | |
| Abnormal Facility In Opposing The Shoulders | |
| Absent Paranasal Sinuses | Aplasia of the paranasal sinuses. |
| Long Second Metacarpal | |
| Human Chorionic Gonadotropin Measurement | |
| Frog-Leg Posture | |
| Muscle Fiber Minicore Regions | |
| Caffeine Dependence | |
| Abnormality Of The Cerebellar Peduncle | An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. |
| Hypermyelinated Retinal Nerve Fibers | |
| Swan Neck-Like Deformities Of The Fingers | A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. |
| Pectoralis Major Hypoplasia | Underdevelopment of the pectoralis major. |
| Upper Limb Muscle Hypoplasia | Underdevelopment of muscles of the arm. |
| Abnormal Macrophage Morphology | any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells |
| Deep White Matter Hypodensities | Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. |
| Abnormality Of Vitamin Metabolism | An anomaly in the metabolism of a vitamin. |
| Hypersarcosinuria | |
| Sarcosinemia | |
| Interleukin 5 Measurement | |
| Foam Cells With Lamellar Inclusion Bodies | The presence of foam cells that contain lamellar inclusion bodies. |
| Pain Around Eye | |
| 4Q21 Microdeletion Syndrome | |
| Chronic Wheezing | |
| Sudden Arrhythmic Death Syndrome | |
| Cold Paresis | |
| Cold-Sensitive Myotonia | |
| Facial Muscle Hypertrophy | |
| Generalized Muscle Hypertrophy | Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. |
| Paramyotonia Congenita | |
| T Wave Alternans | |
| Electrocardiogram Left Posterior Hemiblock (Finding) | |
| Preterm Contractions | |
| Anal Pain | |
| Anal Pain, Ctcae 5 | |
| Corneal Anesthesia | |
| Neuropathy | A nervous system disease that is located in the nervous system. |
| Scalp Pain | |
| Sensitive To Smells | |
| Taste Salty | |
| Axonal Edema | |
| Medullary Cysts | |
| Right Flank Pain | |
| Elevated Circulating Catecholamine Level | An abnormal increase in catecholamine concentration in the blood. |
| Abnormal B-Type Natriuretic Peptide Level | |
| Forehead Hyperpigmentation | |
| Posterior Wedging Of Vertebral Bodies | An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). |
| Hyporeflective Spaces On Macular Oct | |
| P-Selectin Measurement | |
| Soluble P-Selectin Measurement | |
| Infection By Cytauxzoon | |
| Abnormal Vocal Cord Morphology | |
| Decreased Urine Output | A decreased rate of urine production. |
| Elliptical Nystagmus | |
| Glucagon Measurement | |
| Schistosomal Splenomegaly | |
| Antichymotrypsin Bochum 1 Phenotype | |
| Thyroxine-Binding Globulin | |
| Macerated Skin (Finding) | |
| Maceration | |
| Reduced Antithrombin Antigen | |
| Post-Angioplasty Coronary Artery Restenosis | |
| Subendocardial Myocardial Infarction | |
| Transcription Of Plasminogen Activator Inhibitor, Modulator Of | |
| Hemothorax | The presence of blood in the pleural space. |
| Purulent Discharge | |
| Reduced Euglobulin Clot Lysis Time | |
| Laryngeal Edema | An abnormal accumulation of fluid and swelling in the tissues of the larynx. |
| Limbal Edema | |
| Localized Swelling | |
| Swallowing Symptoms | |
| Preterm Premature Rupture Of Membranes (Disorder) | |
| Increased Density Of Long Bones | An abnormal increase in the bone density of the long bones. |
| Wide Distal Femoral Metaphysis | Increased width of the distal part of the shaft (metaphysis) of the femur. |
| Neuromuscular Manifestations | |
| Abnormal Number Of Granulocyte Precursors | |
| Sparse Lower Eyelashes | |
| Pulmonary Opacity | |
| Word Finding Difficulty (Disorder) | |
| Negative Myoclonus | |
| Abnormality Of Carbohydrate Metabolism/Homeostasis | An abnormality of the metabolism/homeostasis of a carbohydrate. |
| Autism, Susceptibility To | |
| Moderate Receptive Language Delay | |
| Immunodeficiency | |
| Reduced Natural Killer Cell Activity | Reduced ability of the natural killer cell to function in the adaptive immune response. |
| Afferent Pupillary Defect | |
| Mandibular Enlargement | |
| Retraction Of Lower Eyelid | |
| Frequent Giardia Lamblia Infestation | |
| Prolonged Brainstem Auditory Evoked Potentials | |
| Segmental Peripheral Demyelination | A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. |
| Prominent Median Palatal Raphe | Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. |
| Loose Anagen Hair | |
| Abnormal Metatarsal Morphology | |
| Dorsal Subluxation Of Ulna | Partial dislocation of the ulna in the dorsal direction. |
| Dorsolateral Bowed, Short Radii | |
| Mesomelic Short Stature | A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). |
| Short Forearm | |
| Abnormal Eye Morphology | A structural anomaly of the eye. |
| Beta-Endorphin Measurement | |
| Abnormality Of The Proximal Phalanx Of The Thumb | In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| Thick Ear Helices | |
| Premature Posterior Fontanelle Closure | |
| Memory Quantitative Trait Locus | |
| Hepatocellular Jaundice | |
| Abnormal Lung Morphology | any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs |
| Orthostatic Intolerance | |
| Jk-Null Variant, Finnish Type | |
| Uric Acid Concentration | |
| Paroxysmal Atrial Tachycardia | |
| Paroxysmal Atrial Tachycardia, Ctcae | |
| Fractional Shortening | |
| Primary Thunderclap Headache | |
| Decreased Carnitine Level In Liver | |
| Reduced Muscle Carnitine Level | |
| Abnormal Foveal Morphology On Macular Oct | |
| Epileptic Encephalopathy | |
| Elevated Plasma Citrulline | An increased concentration of citrulline in the blood. |
| Chorioretinal Hypopigmentation | |
| Aplastic/Hypoplastic Lacrimal Glands | Absence or underdevelopment of the lacrimal gland. |
| Abnormal Mitochondrial Shape | An anomaly in the surface contour of mitochondria. |
| Increased Serum Alanine | |
| Motheaten Muscle Fibers | |
| Double-Layered Patella | |
| Hypertrophic Auricular Cartilage | |
| Laryngeal Cartilage Malformation | |
| Alcohol Withdrawal-Induced Major Motor Seizure | |
| Status Epilepticus, Alcohol Withdrawal-Induced | |
| Hypoglycorrhachia | Abnormally low glucose concentration content in the cerebrospinal fluid. |
| Paroxysmal Lethargy | Repeated episodes of sudden-onset and transient lethargy. |
| Chronic Acidosis | Longstanding abnormal acid accumulation or depletion of base. |
| Abnormal Transferrin Saturation | |
| Intraalveolar Nodular Calcifications | |
| Calcium Nephrolithiasis | The presence of calcium-containing calculi (stones) in the kidneys. |
| Congenital Disorder Of Glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| Decreased Platelet Glycoprotein Ib | |
| Decreased Galactosylation Of N-Linked Protein Glycosylation | |
| Elevated Brain N-Acetyl Aspartate Level By Mrs | |
| Increased Circulating Thyroglobulin Level | |
| Lymphocyte Count Abnormal | |
| Ocular Flutter | |
| Antithrombin Antigen Measurement | |
| Response To Aromatase Inhibitor | |
| Dietary Zinc Deficiency | |
| Hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| Argininuria | A increased concentration of arginine in the urine. |
| Ornithinuria | An increased concentration of ornithine in the urine. |
| Folate Malabsorption | |
| Folate-Responsive Megaloblastic Anemia | A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. |
| Acanthocytosis Due To Band 3 Ht | |
| Blood Group--Froese | |
| Blood Group--Waldner Type | |
| Blood Group--Wright Antigen | |
| Swann Blood Group Antigen Phenotype | |
| Bicarbonate-Wasting Renal Tubular Acidosis | |
| Increased Red Cell Osmotic Resistance | |
| Cranial Nerve Motor Loss | |
| Progressive Inspiratory Stridor | |
| Glucagon-Like Peptide-1 Measurement | |
| Hyperactive Bowel Sounds | |
| Neutral Hyperaminoaciduria | |
| Irritable Heart | |
| Orthostatic Tachycardia | An increase in heart rate with standing of 30 beats per minute or more. |
| Other Heart Block | |
| Paternal Alcoholism | |
| Sexual Symptom | |
| Obessive-Compulsive Disorder | |
| Ritualistic Behavior (Symptom) | |
| Ornithine Measurement | |
| Increased Serum Zinc | An increased consentration of zinc in the blood. |
| Atrophy Of Vas Deferens | |
| Hyperbilirubinemia, Rotor Type, Digenic | |
| Left Ventricular Function | |
| Peri-Menopausal | |
| Abnormality Of Bladder Morphology | |
| Dilatation Of The Sinus Of Valsalva | |
| Eosinophilia | |
| Craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| Lateral Displacement Of The Femoral Head | A developmental anomaly with lateral displacement of the femoral head. |
| Absent Neutrophil Specific Granules | Lack of specific granules in neutrophils. |
| Delayed Separation Of Umbilical Cord | |
| Talus Valgus | |
| Abnormality Of The Midface | An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma. Traditionally, the nose and premaxilla are not included in the midface. |
| Infant Death | |
| Polyminimyoclonus | |
| Spinal Muscular Atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. |
| Camptodactyly Of 2Nd-5Th Fingers | The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. |
| True Anophthalmia | |
| Obliteration Of The Pulp Chamber | Obliteration of the pulp chambers owing to mineralization of the dental pulp. |
| Blood Gases Abnormal | |
| Diffuse Reticular Or Finely Nodular Infiltrations | |
| Alice In Wonderland Syndrome | |
| Gastrosplenic Fistula | |
| Gossypiboma | |
| Transient Osteoporosis Of Hip | |
| Unilateral Leg Pain | |
| Incisor Protrusion | |
| Muscle Disease Manifestations | |
| Neuroparalysis | |
| Skeletal Muscle Paralysis | |
| Tic, Gestural | |
| Tic, Transient | |
| Tumor Pain | |
| Anomalous Rib Insertion To Vertebrae | |
| Calcaneal Epiphyseal Stippling | |
| Gap In Ribs | |
| Stiff Limbs | |
| Superoxide Dismutase, Elevated Extracellular | |
| Abnormal Common Carotid Artery Morphology | any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery |
| Zhu-Tokita-Takenouchi-Kim Syndrome | |
| Coordination Deficit | |
| Cortically Dense Long Tubular Bones | Increased density of the compact bone of long bone. |
| Facial Palsy Secondary To Cranial Hyperostosis | Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. |
| Sclerotic Scapulae | Increased density of the bony tissue of the scapula. |
| Massive Edema | |
| Teratogenesis | |
| Plantar Telangiectasia | |
| Exaggerated Median Tongue Furrow | |
| Anterior Tibial Bowing | An abnormal anterior bending or curvature of the tibia. |
| Poorly Ossified Cervical Vertebrae | Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. |
| Abnormal Serum Interferon-Gamma Level | |
| Decreased Proportion Of Memory B Cells | |
| Spastic Paraplegia | Spasticity and weakness of the leg and hip muscles. |
| Broad Proximal Phalanx Of The Hallux | |
| Paraplegia | |
| Peripheral Neuralgia | |
| Insulin-Dependent But Ketosis-Resistant Diabetes | Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. |
| Iga Deposition In The Glomerulus | |
| Left Aortic Arch With Retroesophageal Right Subclavian Artery | |
| Nuchal Cord | A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. |
| Uniparental Disomy | abnormal assortment of chromosomes from parent to offspring whereby the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent |
| Moderate Drinker | |
| Thyroglobulin Measurement | |
| Anterior Diastema Of Teeth | |
| Stat3 Gain Of Function | |
| Curved 4Th Toe Phalanx | |
| Abnormal Pigmentation Of The Oral Mucosa | An abnormality of the pigmentation of the mucosa of the mouth. |
| Labial Lentigo | |
| Mucosal Pigmentation | |
| Precocious Puberty With Sertoli Cell Tumor | |
| T-Cell Immunodeficiency | |
| Multilobulated Spleen | |
| Abnormal Natural Killer Cell Physiology | A functional anomaly of the natural killer cell. |
| Intermittent Hyperpnea At Rest | |
| Rapid Neurologic Deterioration | |
| Retching | |
| Stomach Fullness | |
| Atrophy/Degeneration Affecting The Central Nervous System | |
| Muscle Pain Chronic | |
| Nausea Chronic | |
| Abnormal Sacral Segmentation | |
| Prominent Protruding Coccyx | |
| Atrophy/Degeneration Affecting The Cerebrum | The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. |
| Torsade De Pointes, Ctcae | |
| Serositis | |
| Decreased Fibular Diameter | |
| Alcohol Dependence, Susceptibility To | |
| Beta-Glucopyranoside Tasting | |
| Fh: Depression | |
| Thiourea Tasting | |
| Stinging Sensation | |
| Abnormality Of Placental Membranes | |
| Anterior Plagiocephaly | |
| Caused By Mutation In The Tbc1 Domain Family, Member 24 Gene (Tbc1D24, 613577.0004) | |
| Malalignment Of The Great Toenail | |
| Prolonged Somatosensory Evoked Potentials | |
| Small Cerebellar Cortex | |
| Adrenal Medullary Hypoplasia | Developmental hypoplasia of the adrenal medulla. |
| Complete Breech Presentation | |
| Ventral Septal Defect | |
| Abnormal Morphology Of Ulna | |
| Unilateral Narrow Palpebral Fissure | A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. |
| Brachioradial Pruritus | |
| Pain Of Nose | |
| Chromosome 2, Monosomy 2Q24 | |
| Anterior Rounding Of Vertebral Bodies | |
| Rhythm From Artificial Pacing | |
| Short Uvula | |
| Cardiopulmonary Exercise Test | |
| Residue On Palate | |
| Axillary Apocrine Gland Hypoplasia | Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. |
| Short 4Th Toe | Underdevelopment (hypoplasia) of the fourth toe. |
| Sucrose-Phosphate Synthase Activity | |
| Talocalcaneal Synostosis | |
| Congenital Heart Disease | OMIM mapping confirmed by DO. [SN]. |
| Posterior Rib Fusion | Complete or partial merging of the posterior part of adjacent ribs. |
| Impaired Thromboxane A2 Agonist-Induced Platelet Aggregation | |
| Kidney Problem | |
| Sensation Of Warmth | |
| Skin Blotches | |
| Impaired Glucose Tolerance In Obese | |
| Abnormal Parotid Gland Morphology | any structural anomaly of either of the largest of the major salivary glands situated below and in front of each ear |
| Absent Crus Of Helix | |
| Tracheal Diverticulosis | |
| Placenta Accreta | A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. |
| Abnormal Albumin Level | Deviation from normal concentration of albumin in the blood. |
| Transferrin Variant | |
| Hypertransaminasaemia | |
| Ectopic Lacrimal Punctum | |
| Ectopic Thymus Tissue | |
| Fusion Of Middle Ear Ossicles | Bony fusion of malleus, incus, and stapes. |
| Unilateral Conductive Hearing Impairment | |
| Upper Lip Pit | |
| Distal/Middle Symphalangism Of 5Th Finger | Fusion of the terminal/distal and middle phalanges of the 5th finger. |
| No Permanent Dentition | |
| Symphalangism Of The 5Th Finger | Fusion of two or more bones of the 5th finger. |
| Rhonchopathy | |
| Increased T3/T4 Ratio | A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. |
| Narrowing Of Medullary Canal | |
| Peritoneal Sclerosis | |
| Arrhythmogenic Right Ventricular Dysplasia | |
| Nodular Corneal Dystrophy | |
| Multiple Self-Healing Squamous Epithelioma, Susceptibility To | |
| Inguinal Hernia, Direct | |
| Palmoplantar Scaling Skin | |
| Lumbar Disc Herniation, Susceptibility To | |
| Growth Retardation | |
| Pain In Femur | |
| Fine, Reticulate Skin Pigmentation | |
| Circulation Problem | |
| Extreme Exhaustion | |
| Granuloma, Foreign-Body | |
| Cerebro-Facio-Thoracic Dysplasia | |
| Abnormal Protein N-Linked Glycosylation | An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. |
| Suprasellar Arachnoid Cyst | |
| Microsaccadic Pursuit | |
| Systolic Murmurs | |
| Hypoproteinemic Edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). |
| Elevated Hepcidin Level | |
| Oropharyngeal Pain | |
| Tnf Receptor Binding, Altered | |
| Fragile Teeth | |
| Fever With Rash | |
| Caused By Mutation In The Transportin 3 Gene (Tnpo3, 610032.0001) | |
| Lumbar Interpedicular Narrowing | |
| Short Dental Roots | |
| Dna Topoisomerase I, Camptothecin-Resistant | |
| Abnormal Serum Dehydroepiandrosterone Level | |
| Abnormality Of Reproductive System Physiology | An abnormal functionality of the genital system. |
| Abnormality Of Urine Homeostasis | An abnormality of the composition of urine or the levels of its components. |
| Elevated Serum 11-Deoxycortisol | |
| Increased Serum Androstenedione | |
| Occupational Malignant Neoplasm | |
| Secondary Carcinoma | |
| Small Cell Carcinoma Of The Ovary, Hypercalcemic Type | |
| Holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| Decreased Number Of Sweat Glands | The presence of fewer than normal sweat glands. |
| Progressive Alopecia | Progressive loss of hair. |
| Red, Cracking, Peeling Skin At Birth | |
| Vaginal Dryness | |
| Homicidal | |
| Bipolar Affective Disorder, Susceptibility To | |
| Unipolar Depression | Form of depression in those MIDDLE AGE with feelings of ANXIETY.|An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.|Depressive states usually of moderate intensity in contrast with major depression present in neurotic and psychotic disorders.|Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.|Severe mental disorder with onset in MIDDLE AGE, marked by withdrawl, abnormal affect, disturbed intellectual processes, and there may be regression. |
| Serum Chloride Ion Tests | |
| Serum Chloride Level Result | |
| Effort-Induced Polymorphic Ventricular Tachycardias | |
| Thyroid Defect In Oxidation And Organification Of Iodide | |
| Staring | |
| Hump-Shaped Mound Of Bone In Central And Posterior Portions Of Vertebral Endplate | |
| Polymorphic Ventricular Tachycardia By Ecg Finding | |
| Punctate Vasculitis Skin Lesions | |
| Coma, Post-Head Injury | |
| Pericardial Constriction | |
| Unilateral Radial Aplasia | |
| Biconvex Vertebral Bodies | |
| Rhizo-Meso-Acromelic Limb Shortening | |
| Short Fetal Femur Length | |
| Abnormal Elasticity Of Skin | Any abnormal increase or reduction in skin elasticity. |
| Abnormal Activity Of Mitochondrial Respiratory Chain | An increased or decreased activity of the mitochondrial respiratory chain. |
| Cramp In Foot | |
| Feeling Cold | |
| Slow-Growing Nails | |
| Swelling Of Proximal Interphalangeal Joints | |
| Excruciating Pain | |
| Gastrointestinal Sensation | |
| Stinging Of Skin | |
| Abnormal Metaphyseal Vascular Invasion | |
| Absent Primary Metaphyseal Spongiosa | |
| Brachytelomesophalangy | Disproportionately short middle and distal phalanges compared to the hand/foot. |
| Dumbbell-Shaped Metaphyses | |
| Halberd-Shaped Pelvis | |
| Long Coccyx | |
| Severe Carpal Ossification Delay | |
| Sexually Disinhibited Behavior | |
| Sodium Serum Level Quantitative Trait Locus 1 | |
| Tissue Pain | |
| Transient Neonatal Hyperparathyroidism | |
| Nonverbal Learning Disorder | |
| Delayed Developmental Milestones | |
| Thyrotropin, Biologically Inactive | |
| Activating Thyroid-Stimulating Hormone Receptor Defect | |
| Thyroid Carcinoma With Thyrotoxicosis, Somatic | |
| Thyroid Hyperplasia | Hyperplasia of the thyroid gland. |
| Thyroid Stimulating Hormone Resistance | |
| Absent Peristalsis | |
| Low Insertion Of Columella | |
| Dysplastic Testes | |
| Partial Development Of The Penile Shaft | |
| Staccato Cry | |
| Intussusception Of Rectum | |
| Rectocele | |
| Abnormality Of The Ductus Choledochus | |
| Jejunoileal Ulceration | |
| Atrial Reentry Tachycardia | |
| Amyloid Deposition In The Vitreous Humor | |
| Palmar Reflex | |
| Oocyte Arrest | |
| Peristomal Abscess | |
| Maximal Midexpiratory Flow Rate | Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%. |
| Abnormality Of Male External Genitalia | An abnormality of male external genitalia. |
| Aged Leonine Appearance | |
| Multiple Rows Of Eyelashes | |
| Impaired Body Position Sense | |
| Gastrojejunal Tube Feeding In Infancy | |
| Stage, Rectal Cancer | |
| Absent Skin Pigmentation | Lack of skin pigmentation (coloring). |
| Euphoric Mood | |
| Lower Extremity Joint Dislocation | Displacement or malalignment of one or more joints in the lower extremity (leg). |
| Lumbar Hypertrichosis | |
| Abnormal Chromosome Morphology | any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information |
| Midline Skin Dimples Over Anterior/Posterior Fontanelles | |
| Episodic Ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| Wide Proximal Femoral Metaphysis | |
| Bilirubin, Serum Level Of, Quantitative Trait Locus 1 | |
| Opiate Withdrawal Symptoms | |
| Orotic Acid Crystalluria | Formation of crystals owing to an increased concentration of orotic acid in the urine (FMA:12274). |
| Reduced Orotidine 5-Prime Phosphate Decarboxylase Activity | An abnormal decrease in orotidine 5'-phosphate decarboxylase activity. |
| Recurrent Shingles | |
| Increased Susceptibility To Malignancy | |
| Eeg With Occipital Slowing | |
| Chromosome 15, Trisomy Mosaicism | |
| Erythrodontia | |
| Pink Urine | |
| Infusion Pump Alert Priority Pn | |
| Abnormality Of Upper Limb Bone | |
| Abnormality Of Upper Limb Joint | |
| 1-Minute Apgar Score Of 1 | |
| 5-Minute Apgar Score Of 5 | |
| Abnormal Thyroid Hormone Level | aberrant concentration of any of the hormones secreted by the thyroid gland |
| Abnormality Of The Periodontium | |
| Peripheral Tractional Retinal Detachment | |
| Abnormality Of Hand Joint Mobility | |
| Increased Spinal Bone Density | |
| Arterial Ischemia | |
| Mandibular Deviation | |
| Refractory Angina | |
| Lupus-Like Rash | |
| Self-Mutilation Of Tongue And Lips Due To Involuntary Movements | |
| Cutis Laxa | A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. |
| Macrosaccadic Oscillations | |
| Abnormality Of The Auditory Canal | An abnormality of the External acoustic tube (also known as the auditory canal). |
| Von Willebrand Factor Vicenza Phenotype | |
| Abnormal Delayed Hypersensitivity Skin Test | Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. |
| Absent Microvilli On The Surface Of Peripheral Blood Lymphocytes | |
| Oral Hemorrhage | |
| Reduced Lymphocyte Surface Expression Of Cd43 | |
| Meckel Syndrome | An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis. |
| Small Eyes | |
| Asymptomatic | |
| Asthenozoospermia Finding | |
| Hypomature Dental Enamel | A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. |
| Aplasia Of The Inferior Half Of The Cerebellar Vermis | |
| Limited Mobility Of Proximal Interphalangeal Joint | |
| Low-Frequency Sensorineural Hearing Impairment | A form of sensorineural hearing impairment that affects primarily the lower frequencies. |
| Defective T Cell Proliferation | |
| Narrow Nail | Decreased width of nail. |
| Impaired Feeding Ability | |
| Peripheral Pulmonary Vessel Aplasia | |
| Chronic Post-Thoracotomy Pain | |
| Abnormal Extension | |
| Anteriorly Displaced Genitalia | |
| Aplasia/Hypoplasia Involving The Carpal Bones | Absence or underdevelopment of the carpal bones. |
| Aplastic Pubic Bones | |
| Pilonidal Cyst | |
| Short Bowed Radii | |
| Aplasia/Hypoplasia Of The Testes | Absence or underdevelopment of the testes. |
| Gonadal Tissue Inappropriate For External Genitalia Or Chromosomal Sex | |
| Angioedema Induced By Ace Inhibitors, Susceptibility To | |
| Nephronophthisis | An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
| Absent Scaphoid | |
| Normal Motor Development | |
| Dieulafoy'S Vascular Malformation | |
| Superiorly Displaced Ears | |
| Caused By Mutation In The Zinc Finger- And Btb Domain-Containing Protein-42 (Zbtb42, 613915.0001) | |
| Abnormal Morphology Of The Hippocampus | |
| Abnormality Of The Xiphoid Process | |
| Deep Cerebral White Matter Hyperdensities | |
| Rectal Stenosis, Ctcae | |
| Vacterl Association, X-Linked | |
| Dehydroepiandrosterone Assay | |
| Expressive Language Impairment | |
| Chronic Intractable Pain | |
| Mammographic Breast Density | disease cluster belonging to disease group other |
| Nephrolithiasis | Formation of stones in the KIDNEY. |
| Abnormality Of The Glabella | An abnormality of the glabella. |
