DisGeNET Gene-Phenotype Associations Dataset

Description gene-phenotype associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature
Measurement genetic association by data aggregation from genome-wide association and other genetic association studies
Association gene-phenotype associations curated from genetic association studies
Category disease or phenotype associations
Resource DisGeNET
Last Updated 2023 Mar 09
  1. 14002 genes
  2. 6832 phenotypes
  3. 196561 gene-phenotype associations

Data Access



  • Gene Attribute

  • Gene Similarity

  • Attribute Similarity

  • UMAP

phenotype Gene Sets

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.
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
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.
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.
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.
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.
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
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.
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.
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
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)
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
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.
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.
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.
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.
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 .
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
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
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 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.
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.
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
Arthralgia Joint pain.
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)
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
Drug Usage
Early Pregnancy
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
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
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).
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.
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).
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
Mobility Limitation
Photosensitivity Of Skin
Recurrent Tumor
Reticulocytosis An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
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
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
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.
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
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
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.
Neonatal Insulin-Dependent Diabetes Mellitus
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
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.
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
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.
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.
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)
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.
Decrease In Appetite
Dimple Chin
Failure To Gain Weight
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
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.
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.
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
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
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
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
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
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.
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
Psychiatric Symptom
Pulmonary Edema
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
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.
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.
Saturnine Tremor
Senile Tremor
Static Tremor
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
Nociceptive Pain
Taste Sweet
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.
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
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.
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.
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
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
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.
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
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
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.
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.
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
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.
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.
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
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
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.
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
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
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
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
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
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
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
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
Swelling Of Limb
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.
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
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
Vasomotor Symptom
Diastolic Blood Pressure Measurement
Decreased Resting Energy Expenditure
Increased Waist To Hip Ratio
Labor Pain
Nocturnal Cough
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.
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.
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).
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.
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
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
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
Abruptio Placentae
Dissection, Blood Vessel
Distributive Shock
Hypouricemia An abnormally low level of uric acid in the blood.
Neointima Formation
Peptic Ulcer Hemorrhage
Postexertional Fatigue
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
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
Tumor Promotion
[D]Sleep Disturbances (& [Hypersomnia] Or [Insomnia])
Auricular Swelling
Orofacial Pain
Radicular Pain
Sciatica Pain in the lower back and hip radiating in the distribution of the sciatic nerve.
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
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.
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.
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
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 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
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.
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.
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.
Multiple Organ Failure
Response To Epirubicin
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
Isosexual Precocious Puberty
Menopausal Symptom
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
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
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
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.