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
|
|
|
Exanthema
|
|
|
Hepatomegaly
|
|
|
Pathologic Fistula
|
|
|
Alcohol Consumption
|
|
|
Antisocial Behavior
|
|
|
Cns Metastases
|
|
|
Creatinine Measurement, Serum (Procedure)
|
|
|
Depressed Mood
|
|
|
Glomerular Filtration Rate
|
|
|
Low Density Lipoprotein Cholesterol Measurement
|
|
|
Neoplasm Metastasis
|
|
|
Polyps
|
|
|
Seizures
|
|
|
Serum Total Cholesterol Measurement
|
|
|
Triglycerides Measurement
|
|
|
Tumor Cell Invasion
|
|
|
Uric Acid Measurement (Procedure)
|
|
|
Abnormal Behavior
|
|
|
Alzheimer Disease
|
|
|
Cardiomegaly
|
|
|
Decreased Level Of Gaba In Serum
|
|
|
Drug-Induced Liver Disease
|
|
|
Fever
|
|
|
Inflammation
|
|
|
Long-Tract Signs
|
|
|
Mental Deterioration
|
|
|
Neuralgia
|
|
|
Neurofibrillary Degeneration (Morphologic Abnormality)
|
|
|
Thromboembolism
|
|
|
Urinary Incontinence
|
|
|
Venous Thromboembolism
|
|
|
Abnormal Platelet Function
|
|
|
Abnormality Of Coagulation
|
|
|
Aplasia/Hypoplasia Of The Abdominal Wall Musculature
|
|
|
Bleeding Tendency
|
|
|
Cardiac Arrhythmia
|
|
|
Coarse Hair
|
|
|
Delayed Bone Age
|
|
|
Downward Slant Of Palpebral Fissure
|
|
|
Enlarged Thorax
|
|
|
Feeding Difficulties In Infancy
|
|
|
High Forehead
|
|
|
Joint Hyperflexibility
|
|
|
Low Posterior Hairline
|
|
|
Low-Set, Posteriorly Rotated Ears
|
|
|
Midface Retrusion
|
|
|
Muscle Hypotonia
|
|
|
Muscle Weakness
|
|
|
Nystagmus
|
|
|
Orbital Separation Excessive
|
|
|
Short Stature
|
|
|
Short Stature, Ctcae
|
|
|
Thick Lower Lip Vermilion
|
|
|
Thickened Helices
|
|
|
Thickened Nuchal Skin Fold
|
|
|
Triangular Face
|
|
|
Wide Spaced Nipples
|
|
|
Body Mass Index
|
|
|
Blood Group Antigen Abnormality
|
|
|
Blood Protein Measurement
|
|
|
Hematocrit Procedure
|
|
|
Hemoglobin Measurement
|
|
|
Mean Corpuscular Volume (Result)
|
|
|
Platelet Component Distribution Width Measurement
|
|
|
Platelet Mean Volume Determination (Procedure)
|
|
|
Polyuria
|
|
|
Rdw - Red Blood Cell Distribution Width Result
|
|
|
Red Blood Cell Count Measurement
|
|
|
Red Cell Distribution Width Determination
|
|
|
Tumor Progression
|
|
|
Abnormal Pigmentation
|
|
|
Abnormal Visual Evoked Potential
|
|
|
Abnormality Of The Hypothenar Eminence
|
|
|
Adrenal Gland Hypofunction
|
|
|
Adrenocorticotropin Receptor Defect
|
|
|
Anisocoria
|
|
|
Ataxia
|
|
|
Babinski Reflex
|
|
|
Childhood Onset
|
|
|
Decreased Circulating Aldosterone Level
|
|
|
Decreased Circulating Cortisol Level
|
|
|
Generalized Hyperpigmentation
|
|
|
Hyperpigmentation
|
|
|
Hyperreflexia
|
|
|
Hypotension
|
|
|
Motor Axonal Neuropathy
|
|
|
Myoclonus
|
|
|
Paraparesis, Spastic
|
|
|
Plantar Hyperkeratosis
|
|
|
Prolonged Neonatal Jaundice
|
|
|
Respiratory Insufficiency
|
|
|
Visual Impairment
|
|
|
Hyperactive Behavior
|
|
|
Memory Impairment
|
|
|
Acanthosis
|
|
|
Bone Density
|
|
|
Hypergranulosis
|
|
|
Nail Abnormality
|
|
|
Orthokeratosis
|
|
|
Age At Menarche
|
|
|
Body Height
|
|
|
Pain
|
|
|
Tactile Allodynia
|
|
|
Carcinogenesis
|
|
|
Finding Of Mean Corpuscular Hemoglobin
|
|
|
Intelligence
|
|
|
Reticulocyte Count (Procedure)
|
|
|
Anteriorly Placed Anus
|
|
|
Macule
|
|
|
Microcephaly
|
|
|
Protein C Antigen Measurement
|
|
|
Protein C Measurement
|
|
|
Suntan
|
|
|
Abnormal Corpus Callosum Morphology
|
|
|
Abnormal Myelination
|
|
|
Absent Reflex
|
|
|
Cerebellar Ataxia
|
|
|
Chorea
|
|
|
Cns Hypomyelination
|
|
|
Decreased Motor Nerve Conduction Velocity
|
|
|
Delayed Speech And Language Development
|
|
|
Difficulty Walking
|
|
|
Distal Muscle Weakness
|
|
|
Distal Sensory Impairment
|
|
|
Eeg With Multifocal Slow Activity
|
|
|
Feeding Difficulties
|
|
|
Fetal Growth Retardation
|
|
|
Foot Dorsiflexor Weakness
|
|
|
Gait, Unsteady
|
|
|
Generalized Hypotonia
|
|
|
Hammer Toe
|
|
|
Hyporeflexia
|
|
|
Hypsarrhythmia
|
|
|
Impulsive Behavior
|
|
|
Limb Hypertonia
|
|
|
Muscle Rigidity
|
|
|
Muscle Spasticity
|
|
|
Poor Head Control
|
|
|
Reduced Fetal Movement
|
|
|
Retinal Degeneration
|
|
|
Skeletal Muscle Atrophy
|
|
|
Spasticity, Ctcae
|
|
|
Tremor
|
|
|
Variable Expressivity
|
|
|
Acidosis, Lactic
|
|
|
Combined Oxidative Phosphorylation Deficiency
|
|
|
Death In Infancy
|
|
|
Dystonia
|
|
|
Electroencephalogram Abnormal
|
|
|
Generalized Muscle Weakness
|
|
|
Generalized Muscle Weakness, Ctcae
|
|
|
Increased Serum Lactate
|
|
|
Loss Of Speech
|
|
|
Mixed Respiratory And Metabolic Acidosis
|
|
|
Nerve Degeneration
|
|
|
Polyhydramnios
|
|
|
Progressive Leukoencephalopathy
|
|
|
Dehydration
|
|
|
Hyperlysinuria
|
|
|
Reduced Concentration Span
|
|
|
Blast Cell Proliferation
|
|
|
Dryness Of Eye
|
|
|
Lean Body Mass
|
|
|
Systolic Pressure
|
|
|
Abnormal Deep Tendon Reflex
|
|
|
Absence Seizures
|
|
|
Atonic Absence Seizures
|
|
|
Bulbocavernosus Reflex, Decreased
|
|
|
Bulbocavernousus Reflex Absent
|
|
|
Convulsions
|
|
|
Death In Childhood
|
|
|
Developmental Delay (Disorder)
|
|
|
Epileptic Seizures
|
|
|
Flaccid Muscle Tone
|
|
|
Floppy Muscles
|
|
|
Generalized Absence Seizures
|
|
|
Gustatory Seizure
|
|
|
High Pitched Cry
|
|
|
Hoffman'S Reflex
|
|
|
Hyperalgesia
|
|
|
Hyperkinesia
|
|
|
Hypersomnolence
|
|
|
Ischemia
|
|
|
Lethargy
|
|
|
Motor Retardation
|
|
|
Muscle Tone Atonic
|
|
|
Myoclonic Seizures
|
|
|
Non-Epileptic Convulsion
|
|
|
Nonepileptic Seizures
|
|
|
Olfactory Seizure
|
|
|
Palmo-Mental Reflex
|
|
|
Posterior Fossa Cyst
|
|
|
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
|
|
|
Severe Muscular Hypotonia
|
|
|
Tall Stature
|
|
|
Tinnitus
|
|
|
Tonic Seizures
|
|
|
Unilateral Hypotonia
|
|
|
Vertiginous Seizure
|
|
|
Abdominal Pain
|
|
|
Abnormality Of The Liver
|
|
|
Accelerated Atherosclerosis
|
|
|
Apolipoprotein A-I Deficiency
|
|
|
Atherogenesis
|
|
|
Atherosclerosis
|
|
|
Blurred Vision
|
|
|
Blurred Vision, Ctcae
|
|
|
Calcification Of Coronary Artery
|
|
|
Chronic Noninfectious Lymphadenopathy
|
|
|
Coinfection
|
|
|
Corneal Opacity
|
|
|
Corneal Stromal Opacities
|
|
|
Decreased Hdl Cholesterol Concentration
|
|
|
Dry Skin
|
|
|
Dry Skin, Ctcae
|
|
|
Electromyogram Abnormal
|
|
|
Endothelial Dysfunction
|
|
|
Facial Diplegia
|
|
|
Gestational Diabetes
|
|
|
Hepatosplenomegaly
|
|
|
High Density Lipoprotein Measurement
|
|
|
Hypertriglyceridemia
|
|
|
Impaired Glucose Tolerance
|
|
|
Impaired Pain Sensation
|
|
|
Impaired Thermal Sensitivity
|
|
|
Leukocytosis
|
|
|
Lymphadenopathy
|
|
|
Orange Discoloured Tonsils
|
|
|
Peripheral Demyelination
|
|
|
Physical Activity Measurement
|
|
|
Premature Coronary Artery Atherosclerosis
|
|
|
Progressive Peripheral Neuropathy
|
|
|
Serum Hdl Cholesterol Measurement
|
|
|
Splenomegaly
|
|
|
Tangier Disease, Variant
|
|
|
Thrombocytopenia
|
|
|
Vascular Inflammations
|
|
|
Waist-Hip Ratio
|
|
|
Abnormality Of The Dentition
|
|
|
Abnormality Of The Helix
|
|
|
Aplasia/Hypoplasia Of The Eyebrow
|
|
|
Depressed Nasal Ridge
|
|
|
Eclabion
|
|
|
Eversion Of Lower Lip
|
|
|
Hearing Impairment
|
|
|
Hyperkeratosis
|
|
|
Hypoplasia
|
|
|
Hypothermia, Natural
|
|
|
Lack Of Skin Elasticity
|
|
|
Limitation Of Joint Mobility
|
|
|
Premature Birth
|
|
|
Pruritus
|
|
|
Recurrent Respiratory Infections
|
|
|
Scaly Skin
|
|
|
Self-Injurious Behavior
|
|
|
Short Finger
|
|
|
Sparse Hair
|
|
|
Sudden Cardiac Death
|
|
|
Disease Exacerbation
|
|
|
Birth Weight
|
|
|
Coughing
|
|
|
Dyspnea On Exertion
|
|
|
Ground-Glass Opacification On Pulmonary Hrct
|
|
|
Neonatal Respiratory Distress
|
|
|
Pathological Accumulation Of Air In Tissues
|
|
|
Pulmonary Hypertension
|
|
|
Pulmonary Valve Insufficiency
|
|
|
Rales
|
|
|
Respiratory Distress
|
|
|
Reticular Pattern On Pulmonary Hrct
|
|
|
Tachypnea
|
|
|
Very Low Birth Weight
|
|
|
Abnormal Retinal Morphology
|
|
|
Abnormal Vision
|
|
|
Abnormality Of Retinal Pigmentation
|
|
|
Anteverted Nostril
|
|
|
Aplasia Of The Bone
|
|
|
Aspartate Aminotransferase Measurement
|
|
|
Attenuation Of Retinal Blood Vessels
|
|
|
Atypical Scarring Of Skin
|
|
|
Blindness
|
|
|
Bone Spicule Pigmentation Of The Retina
|
|
|
Cleft Lip
|
|
|
Color Vision Defect
|
|
|
Electroretinogram Abnormal
|
|
|
Extensively Drug-Resistant Tuberculosis
|
|
|
Foveal Atrophy
|
|
|
Macular Degeneration
|
|
|
Macular Dystrophy
|
|
|
Nasal Bridge Wide
|
|
|
Ophthalmoplegia
|
|
|
Pallor
|
|
|
Paroxysmal Involuntary Eye Movements
|
|
|
Photophobia
|
|
|
Progressive Night Blindness
|
|
|
Reduced Visual Acuity
|
|
|
Retinal Flecking
|
|
|
Retinal Pigment Epithelial Atrophy
|
|
|
Retinal Pigment Epithelial Mottling
|
|
|
Retinal Thinning
|
|
|
Scotoma
|
|
|
Serum Ldl Cholesterol Measurement
|
|
|
Stargardt'S Disease
|
|
|
Unspecified Visual Loss
|
|
|
Visual Field Constriction
|
|
|
X- Linked Recessive
|
|
|
Yellow/White Lesions Of The Macula
|
|
|
Coarse Facial Features
|
|
|
Generalized Hirsutism
|
|
|
Gingival Overgrowth
|
|
|
Hirsutism
|
|
|
Late Tooth Eruption
|
|
|
Suicide Attempt
|
|
|
Thick Eyebrow
|
|
|
Smoking
|
|
|
Smoking Behaviors
|
|
|
Tonometry
|
|
|
Abnormal Social Behavior
|
|
|
Agitation
|
|
|
Blood Basophil Count (Lab Test)
|
|
|
Confusion
|
|
|
Corpuscular Hemoglobin Concentration Mean
|
|
|
Deposits Immunoreactive To Beta-Amyloid Protein
|
|
|
Eosinophil Count Procedure
|
|
|
Finger Agnosia
|
|
|
Forgetful
|
|
|
Hippocampal Atrophy
|
|
|
Muscle Hypertonia
|
|
|
Neutrophil Count (Procedure)
|
|
|
Physiologic Disinhibition
|
|
|
C-Reactive Protein Measurement
|
|
|
Ache
|
|
|
Acute Onset Pain
|
|
|
Addictive Behavior
|
|
|
Adenitis
|
|
|
Akathisia
|
|
|
Angina
|
|
|
Arthralgia
|
|
|
Asthenia
|
|
|
Aura
|
|
|
Avascular Necrosis
|
|
|
Bone Necrosis
|
|
|
Cancer Pain
|
|
|
Carcinoid Tumor
|
|
|
Carcinomatosis
|
|
|
Childhood Solid Neoplasm
|
|
|
Chorioamnionitis
|
|
|
Chromosomal Translocation
|
|
|
Colchicine Resistance
|
|
|
Columnar Cell Change Of The Breast
|
|
|
Coumarin Resistance
|
|
|
Depression
|
|
|
Diarrhea
|
|
|
Difficulty Sleeping
|
|
|
Dizziness
|
|
|
Drug Usage
|
|
|
Early Pregnancy
|
|
|
Endotoxemia
|
|
|
Fatigue
|
|
|
Fatty Liver Disease
|
|
|
Hyperammonemia
|
|
|
Hyponatremia
|
|
|
Increased Drug Resistance
|
|
|
Intestinal Metaplasia
|
|
|
Lipidemias
|
|
|
Liver Disease, Alcoholic, Susceptibility To, 1
|
|
|
Male Infertility
|
|
|
Malignant Transformation
|
|
|
Nausea
|
|
|
Nausea And Vomiting
|
|
|
Neoplasm, Residual
|
|
|
Neoplasms, Experimental
|
|
|
Peripheral Neuropathic Pain
|
|
|
Polydipsia
|
|
|
Postoperative Nausea
|
|
|
Postoperative Nausea And Vomiting
|
|
|
Pregnancy In Diabetics
|
|
|
Primary Lesion
|
|
|
Progressive Neoplastic Disease
|
|
|
Radiating Pain
|
|
|
Refractory Cancer
|
|
|
Simple Partial Status Epilepticus
|
|
|
Solid Neoplasm
|
|
|
Somnolence
|
|
|
Suffering, Physical
|
|
|
Tumor Initiation
|
|
|
Tumor Necrosis
|
|
|
Tumor Vasculature
|
|
|
Vertigo
|
|
|
Vomiting
|
|
|
Withdrawal Symptoms
|
|
|
Alanine Aminotransferase Measurement
|
|
|
Alkaline Phosphatase Measurement
|
|
|
Alkaline Phosphatase Raised
|
|
|
Fasting Blood Glucose Measurement
|
|
|
Fasting Blood Sugar Result
|
|
|
Gastrointestinal Symptom
|
|
|
Glucose Tolerance Test
|
|
|
Icterus
|
|
|
Intermittent Jaundice
|
|
|
Intestinal Malabsorption Of Fat
|
|
|
Liver Neoplasms, Experimental
|
|
|
Serum Alanine Aminotransferase Measurement
|
|
|
Serum Alkaline Phosphatase Raised
|
|
|
Serum Gamma-Glutamyl Transferase Measurement
|
|
|
Severe Diarrhea
|
|
|
Spots On Skin
|
|
|
Absence Of Sensation
|
|
|
Biliary Calculi
|
|
|
Elevated Hepatic Transaminase
|
|
|
Increased Serum Bile Acid Concentration During Pregnancy
|
|
|
Liver Dysfunction
|
|
|
Malabsorption
|
|
|
Malabsorption, Ctcae
|
|
|
Portal Fibrosis
|
|
|
Regurgitation
|
|
|
Stage, Chronic Lymphocytic Leukemia
|
|
|
Electrocardiogram: P-R Interval
|
|
|
Melanoma
|
|
|
Carotid Artery Occlusion
|
|
|
Cerebellar Signs
|
|
|
Coloboma Of Eyelid
|
|
|
Dream Disorder
|
|
|
Dysphonia
|
|
|
Episodic Hemolytic Anemia
|
|
|
Freckles
|
|
|
Hematuria
|
|
|
Hoarseness
|
|
|
Hyperkalemia
|
|
|
Hypermelanotic Macule
|
|
|
Immune Suppression
|
|
|
Impaired Motor Coordination
|
|
|
May-Hegglin Anomaly
|
|
|
Mcv - Raised
|
|
|
Microphthalmia
|
|
|
Mobility Limitation
|
|
|
Photosensitivity Of Skin
|
|
|
Recurrent Tumor
|
|
|
Reticulocytosis
|
|
|
Sleeplessness
|
|
|
Spasm
|
|
|
Spotty Hypopigmentation
|
|
|
Stomatocytosis Result
|
|
|
Total Body Pain Syndrome
|
|
|
Tremor Of Hands
|
|
|
Tumor Angiogenesis
|
|
|
Vascular Calcification
|
|
|
Abnormal Coordination
|
|
|
Abnormality Of Metabolism/Homeostasis
|
|
|
Action Tremor
|
|
|
Cerebellar Dysmetria
|
|
|
Clonus
|
|
|
Dysdiadochokinesis
|
|
|
Nonprogressive Cerebellar Ataxia
|
|
|
Carcinoid Tumor No Icd-O Subtype
|
|
|
Nodule
|
|
|
Respiratory Function Tests
|
|
|
Mathematical Ability
|
|
|
Tubulointerstitial Fibrosis
|
|
|
Biliary Tract Abnormality
|
|
|
Female Pattern Alopecia (Disorder)
|
|
|
Urine Discoloration
|
|
|
Lymphocyte Count Measurement
|
|
|
Drug Habituation
|
|
|
Longevity
|
|
|
Platelet Count Measurement
|
|
|
Prescription Drug Abuse
|
|
|
Response To Irinotecan
|
|
|
Depth Of Anterior Chamber Of Eye
|
|
|
White Blood Cell Count Procedure
|
|
|
Abnormal Endocardium Morphology
|
|
|
Abnormal Platelets
|
|
|
Abnormality Of The Eye
|
|
|
Abnormality Of The Sternum
|
|
|
Abnormally Lax Or Hyperextensible Skin
|
|
|
Arterial Calcification
|
|
|
Blue Sclera
|
|
|
Cerebral Calcification
|
|
|
Cerebral Hemorrhage
|
|
|
Choroidal Neovascularization
|
|
|
Cutaneous Plaque
|
|
|
Electrocardiogram Abnormal
|
|
|
Excessive Wrinkled Skin
|
|
|
Gastrointestinal Hemorrhage
|
|
|
High, Narrow Palate
|
|
|
Hyperextensible Skin
|
|
|
Increased Tendency To Bruise
|
|
|
Intermittent Claudication
|
|
|
Intraoperative Floppy Iris Syndrome
|
|
|
Kyphosis Deformity Of Spine
|
|
|
Medial Calcification Of Large Arteries
|
|
|
Medial Calcification Of Medium-Sized Arteries
|
|
|
Metamorphopsia
|
|
|
Multiple Tumors
|
|
|
Papule
|
|
|
Peau D'Orange Retinal Changes
|
|
|
Peau D'Orange Surface Of Breast
|
|
|
Postural Instability
|
|
|
Renal Colic
|
|
|
Retinal Hemorrhage
|
|
|
Retinopathy, Ctcae
|
|
|
Stricture Of Artery
|
|
|
Subcutaneous Nodule
|
|
|
Telangiectasia
|
|
|
Yellow Papule
|
|
|
Abnormal C-Peptide Level
|
|
|
Abnormal Oral Glucose Tolerance
|
|
|
Acid Reflux
|
|
|
Beta-Cell Dysfunction
|
|
|
Bilateral Ptosis
|
|
|
Brain Edema
|
|
|
Broad Forehead
|
|
|
Cardiac Shunt
|
|
|
Cardiopulmonary Arrest
|
|
|
Comatose
|
|
|
Contracture
|
|
|
Decreased Waist To Hip Ratio
|
|
|
Downturned Corners Of Mouth
|
|
|
Drowsiness
|
|
|
Elevated Hemoglobin A1C
|
|
|
Fasting Hypoglycemia
|
|
|
Glycosuria
|
|
|
Growth Delay
|
|
|
Hyperhidrosis Disorder
|
|
|
Hypoketotic Hypoglycemia
|
|
|
Hypovolemia
|
|
|
Insulin Resistance
|
|
|
Irritability, Ctcae
|
|
|
Irritable Mood
|
|
|
Irritation - Emotion
|
|
|
Islets Of Langerhans Hyperplasia
|
|
|
Large Fleshy Ears
|
|
|
Large For Gestational Age
|
|
|
Large Head (Disorder)
|
|
|
Limb Joint Contracture
|
|
|
Long Philtrum
|
|
|
Mechanical Allodynia
|
|
|
Microalbuminuria
|
|
|
Mild Global Developmental Delay
|
|
|
Motor Delay
|
|
|
Muscular Hypotonia Of The Trunk
|
|
|
Necrosis
|
|
|
Neonatal Insulin-Dependent Diabetes Mellitus
|
|
|
Overweight
|
|
|
Pointed Chin
|
|
|
Progressive Neurologic Deterioration
|
|
|
Prominent Metopic Ridge
|
|
|
Radial Deviation Of Finger
|
|
|
Reduced Pancreatic Beta Cells
|
|
|
Renal Cyst
|
|
|
Short Nose
|
|
|
Small For Gestational Age (Disorder)
|
|
|
Small For Gestational Age Fetus
|
|
|
Steatorrhea
|
|
|
Tachycardia
|
|
|
Weight Decreased
|
|
|
Abnormal Heart Valve Morphology
|
|
|
Advanced Bone Age
|
|
|
Av Block First Degree By Ecg Finding
|
|
|
Broad First Metatarsal
|
|
|
Broad Hallux
|
|
|
Broad Ribs
|
|
|
Bulbous Nose
|
|
|
Coxa Valga
|
|
|
Craniofacial Hyperostosis
|
|
|
Creatine Phosphokinase Serum Increased
|
|
|
Cuboid-Shaped Vertebral Bodies
|
|
|
Curly Eyelashes
|
|
|
Deep Plantar Creases
|
|
|
Depressed Nasal Bridge
|
|
|
Duration Of Sleep
|
|
|
Edema
|
|
|
Erlenmeyer Flask Deformity Of The Femurs
|
|
|
Fatigability
|
|
|
Highly Arched Eyebrow
|
|
|
Large Hand
|
|
|
Large Sella Turcica
|
|
|
Long Eyelashes
|
|
|
Long Nose
|
|
|
Low Anterior Hairline
|
|
|
Melanocortin 4 Receptor Deficiency
|
|
|
Metaphyseal Widening
|
|
|
Narrow Thorax
|
|
|
Neutrophil Abnormality
|
|
|
Oral Synechia
|
|
|
Overgrowth
|
|
|
Ovoid Vertebral Bodies
|
|
|
Platyspondyly
|
|
|
Poor School Performance
|
|
|
Prominent Forehead
|
|
|
Prominent Supraorbital Ridges
|
|
|
Short Distal Phalanx
|
|
|
Short Hallux
|
|
|
Short Neck
|
|
|
Shortened Qt Interval
|
|
|
Sloping Forehead
|
|
|
St Segment Elevation (Finding)
|
|
|
Syncope
|
|
|
Tapering Fingers (Finding)
|
|
|
Thick Nasal Alae
|
|
|
Thick Skin
|
|
|
Thick Upper Lip Vermilion
|
|
|
Thick Vermilion Border
|
|
|
Widened Posterior Fossa
|
|
|
Ankle Clonus
|
|
|
Brisk Reflexes
|
|
|
Episodic Vomiting
|
|
|
Growth Failure
|
|
|
Hyperargininemia
|
|
|
Impaired Distal Proprioception
|
|
|
Impaired Vibration Sensation At Ankles
|
|
|
Impaired Vibration Sensation In The Lower Limbs
|
|
|
Intrauterine Retardation
|
|
|
Leukoaraiosis
|
|
|
Low Back Pain
|
|
|
Lower Limb Hyperreflexia
|
|
|
Paraparesis
|
|
|
Progressive Spastic Paraplegia
|
|
|
Progressive Spasticity
|
|
|
Recurrent Fevers
|
|
|
Romberg'S Sign Positive
|
|
|
Serum Lipids High (Finding)
|
|
|
Slurred Speech
|
|
|
Spastic Gait
|
|
|
Urinary Bladder Sphincter Dysfunction
|
|
|
Very Long Chain Fatty Acid Accumulation
|
|
|
Abnormal Posture
|
|
|
Decreased Adenosylcobalamin
|
|
|
Hernia
|
|
|
Hyperhomocystinemia
|
|
|
Methylmalonic Acidemia
|
|
|
Allergic Reaction
|
|
|
Bone Mineral Density Test
|
|
|
Decreased Concentration
|
|
|
Disseminated Malignant Neoplasm
|
|
|
Weight Gain
|
|
|
Mammary Neoplasms
|
|
|
Response To Statin
|
|
|
Abnormal Eye Physiology
|
|
|
Abnormality Of Nervous System Physiology
|
|
|
Calcification Of The Aorta
|
|
|
Dyslipoproteinemias
|
|
|
Dyspnea
|
|
|
Giant Platelet (Morphologic Abnormality)
|
|
|
Giant Platelet Count (Procedure)
|
|
|
Heart Murmur
|
|
|
Impaired Platelet Aggregation
|
|
|
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
|
|
|
Decreased Tendon Reflex
|
|
|
Distal Muscle Atrophy Due To Neurologic Disease
|
|
|
Forced Expiratory Volume Function
|
|
|
Intention Tremor
|
|
|
Normal Serum Phytanic And Pristanic Acid
|
|
|
Peak Expiratory Flow (Procedure)
|
|
|
Progressive Hearing Impairment
|
|
|
Slow Progression
|
|
|
Acquired Immunodeficiency Syndrome
|
|
|
Aids (Disease)
|
|
|
Anaphylaxis
|
|
|
C4 Complement Assay (Procedure)
|
|
|
Hiv-1, Resistance To
|
|
|
Cytokine Measurement
|
|
|
Diastolic Blood Pressure
|
|
|
Phospholipid Measurement
|
|
|
Abnormal Granulocyte Morphology
|
|
|
Central Nervous System Degeneration
|
|
|
Emg: Myopathic Abnormalities
|
|
|
Increased Csf Protein
|
|
|
Increased Intramyocellular Lipid Droplets
|
|
|
Progressive Proximal Muscle Weakness
|
|
|
Shoulder Girdle Weakness
|
|
|
Small Earlobe
|
|
|
Colonic Polyps
|
|
|
Pseudocholinesterase Measurement
|
|
|
Angioedema
|
|
|
Abnormal Basophil Morphology
|
|
|
Abnormality Of Skeletal Morphology
|
|
|
Anterior Chamber Anomalies
|
|
|
Broad Eyebrow
|
|
|
Constipation
|
|
|
Decrease In Appetite
|
|
|
Dimple Chin
|
|
|
Failure To Gain Weight
|
|
|
Flatfoot
|
|
|
Indolence
|
|
|
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib
|
|
|
Narrow Nose
|
|
|
Other Ureteric Obstruction
|
|
|
Pneumothorax
|
|
|
Reduced Leukocyte Alkaline Phosphatase
|
|
|
Short Lower Third Of Face
|
|
|
Soft Skin
|
|
|
Somatic Mutation
|
|
|
Sunken Eyes
|
|
|
Thin Lips
|
|
|
Thin Skin
|
|
|
Tooth Crowding
|
|
|
Unilateral Ptosis
|
|
|
Upward Slant Of Palpebral Fissure
|
|
|
Vital Capacity
|
|
|
Activated Partial Thromboplastin Time Measurement
|
|
|
Autoantibody Measurement
|
|
|
Blood Urea Nitrogen Measurement
|
|
|
Coagulation Factor Measurement
|
|
|
Creatine Kinase Measurement
|
|
|
E-Selectin Measurement
|
|
|
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
|
|
|
Hemolytic Reaction
|
|
|
Homocysteine Measurement
|
|
|
Hypomagnesemia
|
|
|
Hysteria
|
|
|
Measurement Of Liver Enzyme
|
|
|
Monocyte Count Procedure
|
|
|
Monocyte Count Result
|
|
|
Neonatal Jaundice
|
|
|
Polysomnography
|
|
|
Postoperative Cognitive Dysfunction
|
|
|
Postthrombotic Syndrome
|
|
|
Precancerous Lesions
|
|
|
Prothrombin Gene Mutation
|
|
|
Soluble Interleukin 6 Receptor Measurement
|
|
|
Thyroid Stimulating Hormone Measurement
|
|
|
Venous Thrombosis
|
|
|
Von Willebrand Disease
|
|
|
Wheezing
|
|
|
Viral Load Result
|
|
|
Cachexia
|
|
|
Chronic Pain
|
|
|
Healthcare Associated Pneumonia
|
|
|
Heart Decompensation
|
|
|
Hemoptysis
|
|
|
Inflammatory Pain
|
|
|
Moderate Pain
|
|
|
Dental Plaque
|
|
|
Insulin Sensitivity
|
|
|
Fibrinogen Assay
|
|
|
Chemokine (C-C Motif) Ligand 21 Measurement
|
|
|
2-Methyl-3-Hydroxybutyric Aciduria
|
|
|
Anal Skin Tag
|
|
|
Blood In Stool
|
|
|
Carnitine Deficiency
|
|
|
Dicarboxylic Aciduria
|
|
|
Elevated Plasma Acylcarnitine Levels
|
|
|
Intestinal Fibrosis
|
|
|
Ketotic Hypoglycemia
|
|
|
Skin Manifestations
|
|
|
Cerebellar Hemorrhage
|
|
|
Cerebral Edema
|
|
|
Decreased Activity Of Mitochondrial Complex I
|
|
|
Elevated Creatine Kinase After Exercise
|
|
|
Impaired Exercise Tolerance
|
|
|
Increased Lactate Dehydrogenase Activity
|
|
|
Microvesicular Hepatic Steatosis
|
|
|
Myalgia
|
|
|
Nonketotic Hypoglycemia
|
|
|
Paresis
|
|
|
Prothrombin Time Increased
|
|
|
Acylcarnitines Measurement
|
|
|
Atrial Flutter
|
|
|
Decreased Activity Of 3-Hydroxyacyl-Coa Dehydrogenase
|
|
|
Exercise-Induced Myoglobinuria
|
|
|
Exercise-Induced Rhabdomyolysis
|
|
|
Hepatocellular Necrosis
|
|
|
Muscular Stiffness
|
|
|
Prolonged Qt Interval
|
|
|
Abnormal Lactate Dehydrogenase Activity
|
|
|
Decreased Liver Function
|
|
|
Decreased Plasma Total Carnitine
|
|
|
Elevated Urinary 3-Hydroxybutyric Acid
|
|
|
Exercise-Induced Myalgia
|
|
|
Fatigable Weakness Of Neck Muscles
|
|
|
Lactic Acidemia
|
|
|
Medium Chain Dicarboxylic Aciduria
|
|
|
Metabolic Acidosis
|
|
|
Proximal Muscle Weakness
|
|
|
Reduced Tendon Reflexes
|
|
|
Rhabdomyolysis
|
|
|
Unconscious State
|
|
|
Cardiac Symptom
|
|
|
Episodic Metabolic Acidosis
|
|
|
Ethylmalonic Aciduria
|
|
|
Neonatal Onset
|
|
|
Abnormality Of Circulating Enzyme Level
|
|
|
Anoxemia
|
|
|
Anoxia
|
|
|
Enlarged Cisterna Magna
|
|
|
Episodic Tachypnea
|
|
|
Erythrocyte Mean Corpuscular Hemoglobin Test
|
|
|
Heat Stress Disorders
|
|
|
Hypocalcemia
|
|
|
Hypoxemia
|
|
|
Hypoxia
|
|
|
Increased Circulating Free Fatty Acid Level
|
|
|
Infantile Muscular Hypotonia
|
|
|
Abnormal Breathing
|
|
|
Abnormality Of Epiphysis Morphology
|
|
|
Aortic Stiffness
|
|
|
Ascending Aortic Dissection
|
|
|
Barrel Chest
|
|
|
Body Fat Distribution
|
|
|
Broad Thumbs
|
|
|
Developmental Stagnation
|
|
|
Disproportionate Short Stature
|
|
|
Exostoses
|
|
|
Flat Capital Femoral Epiphysis
|
|
|
Genu Varum
|
|
|
Growth Abnormality
|
|
|
Heartburn
|
|
|
Height
|
|
|
Infant Length
|
|
|
Irregular Epiphyses
|
|
|
Joint Laxity
|
|
|
Proportionate Short Stature
|
|
|
Short Thorax
|
|
|
Waddling Gait
|
|
|
Abnormal Mental State
|
|
|
Abnormal Metabolic Brain Imaging By Mrs
|
|
|
Apathy
|
|
|
Body Odor
|
|
|
Body Odor, Ctcae
|
|
|
Episodic Ketoacidosis
|
|
|
Excessive Daytime Somnolence
|
|
|
Hypermethioninemia
|
|
|
Ketoacidosis
|
|
|
Mammary Tumorigenesis
|
|
|
Increased Serum Pyruvate
|
|
|
Isolated Cases
|
|
|
Lipoprotein (A) Measurement
|
|
|
Mental Retardation
|
|
|
Abscess
|
|
|
Chest Pain
|
|
|
Continuous Leakage Of Urine
|
|
|
Irreducible Ventral Hernia
|
|
|
Paraesophageal Hernia
|
|
|
Postoperative Delirium
|
|
|
Umbilical Hernia
|
|
|
Anemia
|
|
|
Bone Marrow Hypocellularity
|
|
|
Cerebral Ventriculomegaly
|
|
|
Dilated Ventricles (Finding)
|
|
|
Dyskeratosis Congenita
|
|
|
Extrapyramidal Sign
|
|
|
Maturation Defect
|
|
|
Premature Canities
|
|
|
Sparse Scalp Hair
|
|
|
Stage, Colon Cancer
|
|
|
White Blood Cell Abnormality
|
|
|
Adrenal Gland Hyperfunction
|
|
|
Affective Symptoms
|
|
|
Albuminuria
|
|
|
Alexithymia
|
|
|
Angina Symptom
|
|
|
Angiotensin I-Converting Enzyme, Benign Serum Increase
|
|
|
Anuria
|
|
|
Arteriovenous Fistula
|
|
|
Aspirin Intolerance
|
|
|
Back Pain
|
|
|
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
|
|
|
Fibrosis
|
|
|
H/O: Depression
|
|
|
Headache
|
|
|
Hypernatremia
|
|
|
Hyperoxia
|
|
|
Inappropriate Adh Syndrome
|
|
|
Leptomeningeal Enhancement
|
|
|
Lip Swelling
|
|
|
Liver Mass
|
|
|
Maladaptive Behavior Associated With Physical Illness
|
|
|
Male Sterility
|
|
|
Nocturnal Polyuria
|
|
|
Old Myocardial Infarction
|
|
|
Oligohydramnios
|
|
|
Overweight Or Obesity
|
|
|
Persistent Atrial Fibrillation
|
|
|
Persistent Dry Cough
|
|
|
Post Mi
|
|
|
Pre-Eclampsia
|
|
|
Pregnancy Associated Hypertension
|
|
|
Premature Ventricular Contractions
|
|
|
Proteinuria
|
|
|
Psychiatric Symptom
|
|
|
Pulmonary Edema
|
|
|
Sarcopenia
|
|
|
Sleep Disturbances
|
|
|
Spontaneous Abortion
|
|
|
Subfertility, Male
|
|
|
Sudden Death
|
|
|
Symptoms Of Stress
|
|
|
Ureteral Obstruction
|
|
|
Ventilatory Threshold
|
|
|
Ventricular Remodeling
|
|
|
Welts
|
|
|
Widely Patent Fontanelles And Sutures
|
|
|
Abortion, Tubal
|
|
|
Acute Exacerbation Of Chronic Obstructive Airways Disease
|
|
|
Early Pregnancy Loss
|
|
|
Meconium Aspiration Syndrome
|
|
|
Psychological Symptom
|
|
|
Temporal Pain
|
|
|
Thrombosis
|
|
|
Large Nose
|
|
|
Smooth Philtrum
|
|
|
Anxiety
|
|
|
Body Ache
|
|
|
Coarse Tremor
|
|
|
Continuous Tremor
|
|
|
Darkness Tremor
|
|
|
Developmental Academic Disorder
|
|
|
Fine Tremor
|
|
|
Hallucinations
|
|
|
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
|
|
|
Outbursts
|
|
|
Overnutrition
|
|
|
Passive Tremor
|
|
|
Persistent Tremor
|
|
|
Pill Rolling Tremor
|
|
|
Psychotic Symptom
|
|
|
Resting Heart Rate
|
|
|
Resting Tremor
|
|
|
Rhinorrhea
|
|
|
Saturnine Tremor
|
|
|
Senile Tremor
|
|
|
Static Tremor
|
|
|
Tired
|
|
|
Tremor, Limb
|
|
|
Tremor, Muscle
|
|
|
Tremor, Neonatal
|
|
|
Tremor, Perioral
|
|
|
Tremor, Semirhythmic
|
|
|
Duffy Blood Group System, Fy(A-B-) Phenotype
|
|
|
Duffy Blood Group System, Fy(Bwk) Phenotype
|
|
|
Granulocyte Count
|
|
|
Interleukin 8 Measurement
|
|
|
Myeloperoxidase Measurement
|
|
|
Sense Of Smell Impaired
|
|
|
White Blood Cell Count Quantitative Trait Locus 1
|
|
|
Chemokine (C-C Motif) Ligand 19 Measurement
|
|
|
Cholestatic Pruritus
|
|
|
Flushing
|
|
|
Nociceptive Pain
|
|
|
Synkinesis
|
|
|
Taste Sweet
|
|
|
Hyperextension
|
|
|
Knee Joint Laxity
|
|
|
Knee Pain
|
|
|
Knee Symptoms
|
|
|
Subchondral Hematoma
|
|
|
Thyroxine Measurement
|
|
|
Bradykinesia
|
|
|
Neoplasm Invasiveness
|
|
|
Appendicular Hypotonia
|
|
|
Athetosis
|
|
|
Myoclonic Spasms
|
|
|
Progressive Microcephaly
|
|
|
Hypophosphatemia
|
|
|
Decreased Light- And Dark-Adapted Electroretinogram Amplitude
|
|
|
Diffuse Hepatic Steatosis
|
|
|
Gait Disturbance, Ctcae
|
|
|
Intellectual Disability, Progressive
|
|
|
Muscle Damage
|
|
|
No Social Interaction
|
|
|
Hypolipidemia
|
|
|
Colorectal Cancer
|
|
|
Opisthotonus
|
|
|
Adenocarcinoma
|
|
|
Snoring
|
|
|
Widely Spaced Teeth
|
|
|
Abnormal Form Of The Vertebral Bodies
|
|
|
Cellular Immunodeficiency
|
|
|
Hypopigmented Skin Patches On Arms
|
|
|
Immune Dysregulation
|
|
|
Irregular Vertebral Endplates
|
|
|
Large Iliac Wings
|
|
|
Lordosis
|
|
|
Metaphyseal Irregularity
|
|
|
Metaphyseal Sclerosis
|
|
|
Progressive Spastic Quadriplegia
|
|
|
Rest Pain
|
|
|
Restrictive Ventilatory Defect
|
|
|
Breast Pain Female
|
|
|
Chronic Ankle Pain
|
|
|
Chronic Pelvic Pain Of Female
|
|
|
Constitutional Symptom
|
|
|
Heliotrope Rash
|
|
|
Hip Joint Pain
|
|
|
Hip Pain
|
|
|
Left Lower Quadrant Pain
|
|
|
Lower Urinary Tract Symptoms
|
|
|
Mastodynia
|
|
|
Neck Pain
|
|
|
Nipple Discharge
|
|
|
Pain In Wrist
|
|
|
Pricking Of Skin
|
|
|
Right Lower Quadrant Pain
|
|
|
Right Upper Quadrant Pain
|
|
|
Shoulder Pain
|
|
|
Skin Damage
|
|
|
Dicarboxylic Acidemia
|
|
|
Impaired Continence
|
|
|
Intermittent Diarrhea
|
|
|
Animal Mammary Neoplasms
|
|
|
Starvation
|
|
|
Broad Nasal Tip
|
|
|
Drooling
|
|
|
Elliptocytosis
|
|
|
Erythema
|
|
|
Glomerulopathy Assessment
|
|
|
Long Palpebral Fissure
|
|
|
Microscopic Hematuria
|
|
|
Moderate Sensorineural Hearing Impairment
|
|
|
Periorbital Fullness
|
|
|
Poor Speech
|
|
|
Pyloric Stenosis
|
|
|
Shortening Of All Distal Phalanges
|
|
|
Thin Upper Lip Vermilion
|
|
|
Tooth, Supernumerary
|
|
|
Widened Subarachnoid Space
|
|
|
X-Linked Dominant Inheritance
|
|
|
Metaplasia
|
|
|
Abnormality Of The Diaphragm
|
|
|
Adducted Thumb
|
|
|
Autophagic Vaculoes (Finding)
|
|
|
Axial Muscle Weakness
|
|
|
Breech Presentation
|
|
|
Bulbar Signs
|
|
|
Calf Muscle Hypertrophy
|
|
|
Cardiac Conduction Abnormality
|
|
|
Centrally Nucleated Skeletal Muscle Fibers
|
|
|
Clumsiness
|
|
|
Difficulty Walking Up Stairs
|
|
|
Emg: Neuropathic Changes
|
|
|
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
|
|
|
Frequent Falls
|
|
|
Gowers Sign
|
|
|
Hand Muscle Atrophy
|
|
|
Handgrip Myotonia
|
|
|
Hypokinesia
|
|
|
Increased Connective Tissue
|
|
|
Increased Muscle Lipid Content
|
|
|
Increased Variability In Muscle Fiber Diameter
|
|
|
Large Fontanelle
|
|
|
Late-Onset Distal Muscle Weakness
|
|
|
Limb-Girdle Muscle Weakness
|
|
|
Long Face
|
|
|
Lung Function Testing Abnormal
|
|
|
Mask-Like Facies
|
|
|
Multiple Prenatal Fractures
|
|
|
Muscle Fiber Necrosis
|
|
|
Muscle Fiber Predominance
|
|
|
Muscle Fiber Splitting
|
|
|
Muscle Weakness Of Limb
|
|
|
Myopathic Facies
|
|
|
Narrow Face
|
|
|
Neck Flexor Weakness
|
|
|
Neck Muscle Weakness
|
|
|
Nemaline Bodies
|
|
|
Nocturnal Hypoventilation
|
|
|
Poor Suck
|
|
|
Progressive Muscle Weakness
|
|
|
Reduced Forced Vital Capacity
|
|
|
Reduced Vital Capacity
|
|
|
Respiratory Insufficiency Due To Muscle Weakness
|
|
|
Rimmed Vacuoles On Biopsy
|
|
|
Slender Build
|
|
|
Spinal Rigidity
|
|
|
Tented Upper Lip Vermilion
|
|
|
Thin Rib
|
|
|
Torticollis
|
|
|
Type 1 Fibers Relatively Smaller Than Type 2 Fibers
|
|
|
Weak Cry
|
|
|
Winged Scapula
|
|
|
Wrist-Drop
|
|
|
Aneurysm
|
|
|
Carotid Artery Dilatation
|
|
|
Dilatation Of The Cerebral Artery
|
|
|
Dural Ectasia
|
|
|
Hypotonia
|
|
|
Increased Peristalsis
|
|
|
Iris Flocculi
|
|
|
Lung Cancer, Susceptibility To
|
|
|
Mydriasis
|
|
|
Periventricular White Matter Hyperdensities
|
|
|
Aplasia/Hypoplasia Of The Breasts
|
|
|
Burning Sensation
|
|
|
Death In Early Adulthood
|
|
|
Depressed Nasal Tip
|
|
|
Disorientation
|
|
|
Echolalia
|
|
|
Electrocardiography
|
|
|
Externally Rotated Hips
|
|
|
Full Cheeks
|
|
|
Generalized Dystonia
|
|
|
Heterochromia Iridis
|
|
|
Hyperphosphaturia
|
|
|
Infantile Diarrhea
|
|
|
Joint Stiffness
|
|
|
Late Fontanel Closure
|
|
|
Leg Length Inequality
|
|
|
Liver Regeneration Disorder
|
|
|
Muscle Fibrosis
|
|
|
Mutism
|
|
|
Overfolded Helix
|
|
|
Polyclonal Hypergammaglobulinemia
|
|
|
Postnatal Growth Retardation
|
|
|
Rigor - Temperature-Associated Observation
|
|
|
Short Columella
|
|
|
Shoulder Girdle Muscle Atrophy
|
|
|
Sore To Touch
|
|
|
Telecanthus
|
|
|
Uterine Prolapse
|
|
|
Vascular Anomaly
|
|
|
Wide Nose
|
|
|
Abnormality Of The Pinna
|
|
|
Audiogram Shows Sloping Configuration
|
|
|
Deafness
|
|
|
Enlarged Ventricles (In Some Patients)
|
|
|
Eye Coloboma (In Some Patients)
|
|
|
Hearing Loss
|
|
|
Heart Defect (In Some Patients)
|
|
|
Hypertelorism
|
|
|
Kyphosis/Scoliosis (In Some Patients)
|
|
|
Large, Squared Nose Tip
|
|
|
Neoplastic Cell Transformation
|
|
|
Pectus (In Some Patients)
|
|
|
Postnatal Microcephaly
|
|
|
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
|
|
|
Abdomen Distended
|
|
|
Decreased Peristalsis
|
|
|
Dilatation Of The Bladder
|
|
|
Flexion Contracture Of Proximal Interphalangeal Joint
|
|
|
Megacystis
|
|
|
Prominent Nasal Bridge
|
|
|
Round Face
|
|
|
Urinary Retention
|
|
|
Aplasia/Hypoplasia Of The Nails
|
|
|
Cleft Anterior Mitral Valve Leaflet
|
|
|
Abnormal Timing Of Pattern Reversal Visual Evoked Potentials
|
|
|
Absent Speech
|
|
|
Breath-Holding Spell
|
|
|
Broad-Based Gait
|
|
|
Cerebellar Vermis Hypoplasia
|
|
|
Eeg With Generalized Epileptiform Discharges
|
|
|
Focal T2 Hyperintense Brainstem Lesion
|
|
|
Global Brain Atrophy
|
|
|
Impaired Smooth Pursuit
|
|
|
Micronychia (Disorder)
|
|
|
Midfrontal Capillary Hemangioma
|
|
|
Misalignment Of Teeth
|
|
|
Multifocal Epileptiform Discharges
|
|
|
Neurodevelopmental Delay
|
|
|
Open Mouth (Finding)
|
|
|
Poor Eye Contact
|
|
|
Upper Limb Spasticity
|
|
|
Anisocyte Measurement
|
|
|
Anisocytosis
|
|
|
Increased Mean Platelet Volume
|
|
|
Platelet Anisocytosis
|
|
|
Cardiomyocyte Hypertrophy
|
|
|
Sprinting Performance
|
|
|
Abnormal Vertebral Morphology
|
|
|
Broad Femoral Neck
|
|
|
Ectopic Ossification
|
|
|
Progressive Cervical Vertebral Spine Fusion
|
|
|
Short 1St Metacarpal
|
|
|
Small Cervical Vertebral Bodies
|
|
|
Response To Bronchodilator
|
|
|
Microsatellite Instability
|
|
|
Replication Error Phenotype
|
|
|
2-Oxo-Hept-3-Ene-1,7-Dioate Hydratase Activity
|
|
|
Amblyopia
|
|
|
Choriocapillaris Atrophy
|
|
|
Clubbing
|
|
|
Cyanosis
|
|
|
Epistaxis
|
|
|
Fingerpad Telangiectases
|
|
|
Hematemesis
|
|
|
Hematochezia
|
|
|
Lip Telangiectasia
|
|
|
Melena
|
|
|
Nail Bed Telangiectasia
|
|
|
Palate Telangiectasia
|
|
|
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
|
|
|
Circadian Rhythms
|
|
|
Sudden Cardiac Arrest
|
|
|
Absence Of Lymph Node Germinal Center
|
|
|
Absent Specific Antibody Response
|
|
|
Active Hyperemia
|
|
|
Anterior Rib Cupping
|
|
|
Anti-Thyroid Peroxidase Antibody Positivity
|
|
|
Atypical Lymphocyte
|
|
|
Autoimmune State
|
|
|
B Lymphocytopenia
|
|
|
Desquamation Of Skin Soon After Birth
|
|
|
Growth Arrest Lines
|
|
|
Hemorrhage
|
|
|
Lack Of T Cell Function
|
|
|
Myocardial Reperfusion Injury
|
|
|
Reactive Hyperemia
|
|
|
Recurrent Bacterial Infection
|
|
|
Recurrent Fungal Infections
|
|
|
Recurrent Opportunistic Infections
|
|
|
Recurrent Viral Infection
|
|
|
Reduced Red Cell Adenosine Deaminase Activity
|
|
|
Severe B Lymphocytopenia
|
|
|
Short Toe
|
|
|
Structural Clinical Interview For Dsm-Iii
|
|
|
Tonsil Absent
|
|
|
Tumor Expansion
|
|
|
Venous Engorgement
|
|
|
Abnormality Of The Genital System
|
|
|
Amaurosis
|
|
|
Antiphospholipid Antibody Positivity
|
|
|
Delayed Puberty
|
|
|
Hemiparesis
|
|
|
Hemiplegia
|
|
|
Memory Performance
|
|
|
Urticarial Plaque
|
|
|
Vasculitic Rash
|
|
|
Epithelial Cyst
|
|
|
Tumor Immunity
|
|
|
Lumbar Spondylolisthesis
|
|
|
Brain Hypoxia
|
|
|
Pathologic Neovascularization
|
|
|
Bulla
|
|
|
Mucosal Atrophy
|
|
|
Post Embolisation Syndrome
|
|
|
Pustule
|
|
|
Tumor Thrombus
|
|
|
Villous Atrophy
|
|
|
Pulmonary Function
|
|
|
Pulmonary Function (Finding)
|
|
|
Narrow Forehead
|
|
|
Nasal Allergies
|
|
|
Dilatation Of Aorta
|
|
|
Mass Lesion
|
|
|
Broad Metacarpals
|
|
|
Broad Metatarsal
|
|
|
Broad Skull
|
|
|
Narrow Palate
|
|
|
Shallow Anterior Chamber Of Eye
|
|
|
Shallow Orbits
|
|
|
Thin Bony Cortex
|
|
|
Amputated Structure (Morphologic Abnormality)
|
|
|
Blood Urea Increased
|
|
|
Ecchymosis
|
|
|
Endocapillary Hypercellularity
|
|
|
Obesity
|
|
|
Schistocytosis
|
|
|
Septic Shock
|
|
|
Serum Creatinine Raised
|
|
|
Urge Incontinence
|
|
|
Lens Tremulous
|
|
|
Luxation Of Lens
|
|
|
Abnormality Of Subcutaneous Fat Tissue
|
|
|
Behavioral And Psychological Symptoms Of Dementia
|
|
|
Central Corneal Thickness
|
|
|
Cicatrization
|
|
|
Fetal Membranes, Premature Rupture
|
|
|
Fragile Skin
|
|
|
Frontal Open Bite
|
|
|
Gingival Hemorrhage
|
|
|
Hip Joint Varus Deformity - Observation
|
|
|
Late Closure Of Anterior Fontanel
|
|
|
Motor Symptoms
|
|
|
Narcissism
|
|
|
Prolonged Bleeding Time
|
|
|
Recurrent Mandibular Subluxations
|
|
|
Redundant Skin
|
|
|
Short Extremities
|
|
|
Short Phalanx Of Finger
|
|
|
Soft, Doughy Skin
|
|
|
Spontaneous Neonatal Pneumothorax
|
|
|
Wide Anterior Fontanel
|
|
|
Menstrual Spotting
|
|
|
Ascites
|
|
|
Decreased Antibody Level In Blood
|
|
|
Flat Face
|
|
|
Mild Postnatal Growth Retardation
|
|
|
Pulmonary Lymphangiectasia
|
|
|
Reduced Number Of Teeth
|
|
|
Short Philtrum
|
|
|
Sparse Axillary Hair
|
|
|
Vitamin D Measurement
|
|
|
Vitamin D3 Measurement
|
|
|
Corneal Topography
|
|
|
Delayed Eruption Of Permanent Teeth
|
|
|
Delayed Myelination
|
|
|
Polybrominated Biphenyl Measurement
|
|
|
Square Face
|
|
|
High Pitched Voice
|
|
|
J-Shaped Sella Turcica
|
|
|
Short Foot
|
|
|
Short Long Bone
|
|
|
Short Metacarpals With Rounded Proximal Ends
|
|
|
Short Palm
|
|
|
Body Fat Percentage (Physical Finding)
|
|
|
Hip Circumference
|
|
|
Waist Circumference
|
|
|
Abdominal Bloating
|
|
|
Acrocyanosis
|
|
|
Astrocytosis
|
|
|
Atrophy/Degeneration Involving The Caudate Nucleus
|
|
|
Basal Ganglia Gliosis
|
|
|
Chronic Csf Lymphocytosis
|
|
|
Cogwheel Rigidity
|
|
|
Electroretinogram
|
|
|
Extrapyramidal Muscular Rigidity
|
|
|
Gait Ataxia
|
|
|
Increased Csf Interferon Alpha
|
|
|
Increased Serum Interferon-Gamma Level
|
|
|
Loss Of Ability To Walk
|
|
|
Macular Hyperpigmentation
|
|
|
Macular Hypopigmentation
|
|
|
Multifocal Cerebral White Matter Abnormalities
|
|
|
Pyramidal Sign
|
|
|
Quadriparesis
|
|
|
Small Basal Ganglia
|
|
|
Unexplained Fevers
|
|
|
Platinum Measurement
|
|
|
Developmentally Delayed
|
|
|
Interleukin 17 Measurement
|
|
|
Drug Withdrawal Symptoms
|
|
|
Visceral Pain
|
|
|
Heel Toe Gait
|
|
|
Hypercalciuria
|
|
|
Renal Calcium Wasting
|
|
|
Anosmia
|
|
|
Body Mass Index Procedure
|
|
|
Body Mass Index Quantitative Trait
|
|
|
Finding Of Body Mass Index
|
|
|
Central Hypotonia
|
|
|
Facial Myokymia
|
|
|
Myokymia
|
|
|
Upper Limb Hypertonia
|
|
|
Alkalosis
|
|
|
Body Weight
|
|
|
Adverse Event Associated With Cardiac Arrhythmia
|
|
|
High-Grade Squamous Intraepithelial Lesions
|
|
|
Overactive Detrusor
|
|
|
Psychomotor Agitation
|
|
|
Retinal Damage
|
|
|
Vitamin B6 Measurement
|
|
|
Elevated Diastolic Blood Pressure
|
|
|
Elevated Mean Arterial Pressure
|
|
|
Elevated Systolic Blood Pressure
|
|
|
Supranuclear Gaze Palsy
|
|
|
Allergy To Peanuts
|
|
|
Thyroglobulin Antibody Measurement
|
|
|
Abnormality Of Somatosensory Evoked Potentials
|
|
|
Progressive Spastic Paraparesis
|
|
|
Androstenedione Measurement
|
|
|
Facial Erythema
|
|
|
Invasive Carcinoma
|
|
|
Abnormal Cortical Gyration
|
|
|
Cerebral Dysmyelination
|
|
|
Cerebral White Matter Hypoplasia
|
|
|
Frontoparietal Polymicrogyria
|
|
|
Gait Imbalance
|
|
|
Generalized Weakness Of Limb Muscles
|
|
|
Impaired Toileting Ability
|
|
|
Perisylvian Polymicrogyria
|
|
|
Infertility
|
|
|
Ankylosis
|
|
|
Blood Pressure
|
|
|
Scoliosis, Idiopathic, Susceptibility To, 1 (Finding)
|
|
|
Ulnar Deviation
|
|
|
Mean Blood Pressure
|
|
|
Memory, Short-Term
|
|
|
Multiple Malignancy
|
|
|
Abnormality Of Dental Color
|
|
|
Aplasia/Hypoplasia Of The Cerebellum
|
|
|
Eeg With Spike-Wave Complexes
|
|
|
Generalized Tonic Seizures
|
|
|
Hair Color
|
|
|
Limited Knee Extension
|
|
|
Loose Stool
|
|
|
Obsessive-Compulsive Disorder
|
|
|
Pigmentary Iris Degeneration
|
|
|
Poor Fine Motor Coordination
|
|
|
Progressive Visual Loss
|
|
|
Retinal Depigmentation
|
|
|
Tibial Torsion
|
|
|
Visual Symptoms
|
|
|
Abuse Neglect
|
|
|
Alcohol Flush Reaction
|
|
|
Alcohol Problem
|
|
|
Anterior Choroidal Artery Infarction
|
|
|
Cerebral Infarction, Left Hemisphere
|
|
|
Cerebral Infarction, Right Hemisphere
|
|
|
Drunk Driving
|
|
|
Hazardous Drinking
|
|
|
Posterior Choroidal Artery Infarction
|
|
|
Sodium Measurement
|
|
|
Excessive Drinking
|
|
|
Micrographia
|
|
|
Neuronal Loss In Central Nervous System
|
|
|
Personality Change
|
|
|
Short Stepped Shuffling Gait
|
|
|
Substantia Nigra Gliosis
|
|
|
Urinary Urgency
|
|
|
Voice Fatigue
|
|
|
Adiponectin Measurement
|
|
|
Adiponectin, Serum Level Of, Quantitative Trait Locus 1
|
|
|
Adiponectin, Serum Level Of, Quantitative Trait Locus 2
|
|
|
Adiponectin, Serum Level Of, Quantitative Trait Locus 3
|
|
|
Adolescent Obesity
|
|
|
Decreased Adipose Tissue
|
|
|
Eating Disorder Symptom
|
|
|
Hot Flushes
|
|
|
Hunger
|
|
|
Hyperglycemia, Postprandial
|
|
|
Metabolic Symptoms
|
|
|
Monogenic Obesity
|
|
|
Sneezing
|
|
|
Stage, Gastric Cancer
|
|
|
Thin-Cap Fibroatheroma
|
|
|
Female Infertility
|
|
|
Female Sterility
|
|
|
Sterility, Postpartum
|
|
|
Narrow Foot
|
|
|
Neurodevelopmental Abnormality
|
|
|
Acidosis
|
|
|
Acute Abdominal Pain
|
|
|
Acute Dyspnea
|
|
|
Allodynia
|
|
|
Mechanical Pain
|
|
|
Orthostasis
|
|
|
Presyncope
|
|
|
Pyemia
|
|
|
Sclerosis
|
|
|
Shock
|
|
|
Stenosis
|
|
|
Swelling Of Limb
|
|
|
Orchitis
|
|
|
Abnormal Trachea Morphology
|
|
|
Actual Aspiration
|
|
|
Aggressive Behavior
|
|
|
Aspiration, Ctcae
|
|
|
Choroid Plexus Cyst
|
|
|
Chronic Constipation
|
|
|
Cortical Visual Impairment
|
|
|
Difficulty Chewing
|
|
|
Endotracheal Aspiration
|
|
|
Focal White Matter Lesions
|
|
|
Gastrostomy Tube Feeding In Infancy
|
|
|
Generalized Neonatal Hypotonia
|
|
|
High Anterior Hairline
|
|
|
Hyperphagia
|
|
|
Moderate Global Developmental Delay
|
|
|
Premature Tooth Eruption
|
|
|
Protruding Ear
|
|
|
Pulmonary Aspiration
|
|
|
Recurrent Infections
|
|
|
Sandal Gap
|
|
|
Single Transverse Palmar Crease
|
|
|
Slanting Of The Palpebral Fissure
|
|
|
Small Hand
|
|
|
Stereotypic Movement Disorder
|
|
|
Stricture Of Anus
|
|
|
Truncal Obesity
|
|
|
Unintentional Material Aspiration
|
|
|
Bradycardia
|
|
|
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
|
|
|
Fasciculation, Tongue
|
|
|
Bladder Pain
|
|
|
Left Ventricle Remodeling
|
|
|
Cardiac Hypertrophy
|
|
|
Inattention
|
|
|
Eeg With Irregular Generalized Spike And Wave Complexes
|
|
|
Eeg With Photoparoxysmal Response
|
|
|
Enhancement Of The C-Reflex
|
|
|
Giant Somatosensory Evoked Potentials
|
|
|
Jerk-Locked Premyoclonus Spikes
|
|
|
Nonprogressive
|
|
|
Vasomotor Symptom
|
|
|
Diastolic Blood Pressure Measurement
|
|
|
Decreased Resting Energy Expenditure
|
|
|
Hypokalemia
|
|
|
Increased Waist To Hip Ratio
|
|
|
Labor Pain
|
|
|
Nocturnal Cough
|
|
|
Photopsia
|
|
|
Status Asthmaticus
|
|
|
Petechiae Of Skin
|
|
|
Breast Size
|
|
|
Cerebral Hypomyelination
|
|
|
Difficulty Standing
|
|
|
Dysmorphic Facies
|
|
|
Flat Occiput
|
|
|
Hypointensity Of Cerebral White Matter On Mri
|
|
|
Inappropriate Laughter
|
|
|
Severe Psychomotor Retardation
|
|
|
Atrophic Scar
|
|
|
Atrophy Of Quadriceps Femoris Muscle
|
|
|
Blepharospasm, Benign Essential, Susceptibility To
|
|
|
Decreased Achilles Reflex
|
|
|
Difficulty Running
|
|
|
Distal Lower Limb Muscle Weakness
|
|
|
Distal Upper Limb Muscle Weakness
|
|
|
Facial Muscle Weakness Of Muscles Innervated By Cn Vii
|
|
|
Facial Paresis
|
|
|
Gait, Drop Foot
|
|
|
Hyporeflexia Of Lower Limbs
|
|
|
Pseudobulbar Signs
|
|
|
Quadriceps Weakness
|
|
|
Tip-Toe Gait
|
|
|
Triceps Weakness
|
|
|
Recurrent Skin Infections
|
|
|
Cellulitis
|
|
|
Poor Wound Healing
|
|
|
Prematurely Aged Appearance
|
|
|
Prominent Superficial Veins
|
|
|
Range Of Joint Movement Increased
|
|
|
Squared Iliac Bones
|
|
|
Structural Foot Deformity
|
|
|
Thin Eyebrow
|
|
|
Thoracic Scoliosis
|
|
|
Ventral Hernia
|
|
|
Skin Ulcer
|
|
|
Mitochondrial Pathology
|
|
|
Response To Alcohol
|
|
|
Bilirubin Measurement
|
|
|
Prominent Ear Helix
|
|
|
Triangular Tibia
|
|
|
Thick Hair
|
|
|
Abnormal Gallbladder Function
|
|
|
Abnormal Ocular Motility
|
|
|
Birth Length Less Than 3Rd Percentile
|
|
|
Diplopia
|
|
|
Dysarthria
|
|
|
Dysmetric Saccades
|
|
|
Head Tremor
|
|
|
Kinetic Tremor
|
|
|
Ophthalmoparesis
|
|
|
Slowed Saccades
|
|
|
Eye Color
|
|
|
Abnormal Fetus
|
|
|
Alpha-Fetoprotein, Hereditary Persistence Of
|
|
|
Cardiac Cirrhosis
|
|
|
Decreased Levels Of Alpha-Fetoprotein
|
|
|
Hyperornithinemia
|
|
|
Isochromosomes
|
|
|
Simpson-Golabi-Behmel Syndrome
|
|
|
Single Tumor
|
|
|
Vasa Previa
|
|
|
Abdominal Symptom
|
|
|
Abnormality Of Amino Acid Metabolism
|
|
|
Abnormality Of The Ulna
|
|
|
Aspartylglucosaminuria
|
|
|
Aspartylglucosaminuria, Finnish Type
|
|
|
Beaking Of Vertebral Bodies
|
|
|
Broad Face
|
|
|
Dyspepsia
|
|
|
Irritable Bowel Syndrome Characterized By Constipation
|
|
|
Large Face
|
|
|
Pathological Fracture
|
|
|
Prothrombin Time Low
|
|
|
Thickened Calvaria
|
|
|
Vacuolated Lymphocyte Count
|
|
|
Vacuolated Lymphocytes
|
|
|
Insulin Sensitivity Measurement
|
|
|
Triiodothyronine Measurement
|
|
|
Abnormality Of Brain Morphology
|
|
|
Nervousness
|
|
|
Peripheral Visual Field Loss
|
|
|
Bacteremia
|
|
|
Central Post-Stroke Pain
|
|
|
Glial Scar
|
|
|
Hypertrophy
|
|
|
Lower Limb Ischemia
|
|
|
Nerve Pain
|
|
|
Paroxysmal Nerve Pain
|
|
|
Easy Fatigability
|
|
|
Taste Perception (Mental Process)
|
|
|
Heart Rate
|
|
|
Skin Irritant
|
|
|
Violence
|
|
|
Abnormality Of Skeletal Muscle Fiber Size
|
|
|
Broad Foot
|
|
|
Cystic Angiomatosis Of Bone
|
|
|
Decreased Fertility In Females
|
|
|
Decreased Serum Leptin
|
|
|
Dysmenorrhea
|
|
|
Generalized Muscular Appearance From Birth
|
|
|
Growth Hormone Excess
|
|
|
Increased Fracture Rate
|
|
|
Insulin-Resistant Diabetes Mellitus At Puberty
|
|
|
Long Foot
|
|
|
Loss Of Subcutaneous Adipose Tissue In Limbs
|
|
|
Oligomenorrhea
|
|
|
Palpitations
|
|
|
Palpitations, Ctcae
|
|
|
Prolonged Qtc Interval
|
|
|
Prolonged Qtc Interval, Ctcae
|
|
|
Prominent Umbilicus
|
|
|
Reduced Intraabdominal Adipose Tissue
|
|
|
Reduced Intrathoracic Adipose Tissue
|
|
|
Reduced Subcutaneous Adipose Tissue
|
|
|
Secondary Amenorrhea
|
|
|
Skeletal Muscle Hypertrophy
|
|
|
Short Humerus
|
|
|
Stippled Epiphyses
|
|
|
Aggressive Cancer
|
|
|
Processing Speed
|
|
|
Abnormality Of Masticatory Muscle
|
|
|
Ankle Weakness
|
|
|
Choking Episodes
|
|
|
Decreased Miniature Endplate Potentials
|
|
|
Eeg With Polyspike Wave Complexes
|
|
|
Emg: Decremental Response Of Compound Muscle Action Potential To Repetitive Nerve Stimulation
|
|
|
Emg: Impaired Neuromuscular Transmission
|
|
|
Episodic Respiratory Distress
|
|
|
Frontalis Muscle Weakness
|
|
|
Hip Flexor Weakness
|
|
|
Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness
|
|
|
Microretrognathia
|
|
|
Muscle Fiber Atrophy
|
|
|
Narrow Jaw
|
|
|
Nasal Regurgitation
|
|
|
Nasal Voice
|
|
|
Orthopnea
|
|
|
Respiratory Arrest
|
|
|
Staring Gaze
|
|
|
Stridor
|
|
|
Thoracic Kyphoscoliosis
|
|
|
Toe-Walking Gait
|
|
|
Weakness Of Long Finger Extensor Muscles
|
|
|
Weakness Of The Intrinsic Hand Muscles
|
|
|
Decompensated Cirrhosis Of Liver
|
|
|
Thinness
|
|
|
Abruptio Placentae
|
|
|
Dissection, Blood Vessel
|
|
|
Distributive Shock
|
|
|
Hypouricemia
|
|
|
Infarction
|
|
|
Neointima Formation
|
|
|
Peptic Ulcer Hemorrhage
|
|
|
Postexertional Fatigue
|
|
|
Thrombus
|
|
|
Areflexia
|
|
|
Bell-Shaped Thorax
|
|
|
Decreased Muscle Mass
|
|
|
Hypometric Saccades
|
|
|
Overfolding Of The Superior Helices
|
|
|
Allergy To Fish
|
|
|
Bone Pain
|
|
|
Calcinosis
|
|
|
Decreased Glomerular Filtration Rate
|
|
|
Dysuria
|
|
|
Enuresis
|
|
|
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
|
|
|
Expressive Language Delay
|
|
|
Biparietal Narrowing
|
|
|
Delayed Ability To Walk
|
|
|
Elongated Superior Cerebellar Peduncle
|
|
|
Enlarged Fossa Interpeduncularis
|
|
|
Molar Tooth Sign On Mri
|
|
|
Neonatal Breathing Dysregulation
|
|
|
Atrophic
|
|
|
Bone Resorption
|
|
|
Chemical Carcinogenesis
|
|
|
Contact Hypersensitivity
|
|
|
Hyperventilation
|
|
|
Infantile Nystagmus
|
|
|
Nicotine Use Disorder
|
|
|
Potassium Measurement
|
|
|
Severe Dry Skin
|
|
|
Tachyarrhythmia
|
|
|
Tumor Promotion
|
|
|
[D]Sleep Disturbances (& [Hypersomnia] Or [Insomnia])
|
|
|
Auricular Swelling
|
|
|
Glossalgia
|
|
|
Orofacial Pain
|
|
|
Radicular Pain
|
|
|
Sciatica
|
|
|
Microcalcification
|
|
|
Sparse Body Hair
|
|
|
Impaired Ig Class Switch Recombination
|
|
|
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
|
|
|
Abnormality Of The Astrocytes
|
|
|
Abnormality Of The Basal Ganglia
|
|
|
Abnormality Of The Optic Nerve
|
|
|
Enlargement Of The Wrists
|
|
|
Increased Csf Lactate
|
|
|
Large Knee
|
|
|
Muscular Fasciculation
|
|
|
Ragged-Red Muscle Fibers
|
|
|
Reduced Bone Mineral Density
|
|
|
Sensory Axonal Neuropathy
|
|
|
Large Basal Ganglia
|
|
|
Progressive Flexion Contractures
|
|
|
Projectile Vomiting
|
|
|
Low Hanging Columella
|
|
|
Abnormality Of Nail Of Toe
|
|
|
Amenorrhea
|
|
|
Biconcave Vertebral Bodies
|
|
|
Bitemporal Hemianopia
|
|
|
Broad Jaw
|
|
|
Compression Fracture Of Vertebral Column
|
|
|
Decreased Circulating Acth Level
|
|
|
Decreased Female Libido
|
|
|
Decreased Fertility In Males
|
|
|
Deep Palmar Crease
|
|
|
Dyspareunia
|
|
|
Increased Circulating Acth Level
|
|
|
Increased Serum Insulin-Like Growth Factor 1
|
|
|
Increased Size Of Penis
|
|
|
Internal Ophthalmoplegia
|
|
|
Irregular Menstruation
|
|
|
Joint Swelling
|
|
|
Paresthesia
|
|
|
Sudden Loss Of Visual Acuity
|
|
|
Abnormality Of Fundus Pigmentation
|
|
|
Abnormality Of The Optic Disc
|
|
|
Atrophic Macular Change
|
|
|
Autoimmune Polyglandular Syndrome
|
|
|
Decreased Circulating Parathyroid Hormone Level
|
|
|
Hypopigmented Skin Patch
|
|
|
Increased Circulating Cortisol Level
|
|
|
Abnormality Of Mitochondrial Metabolism
|
|
|
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
|
|
|
Sinus Bradycardia, Ctcae
|
|
|
Intestinal Polyps
|
|
|
Lens Opacities
|
|
|
Poorly Differentiated Carcinoma
|
|
|
Neoplasms, Hormone-Dependent
|
|
|
Sex Reversal
|
|
|
Manic
|
|
|
Neonatal Cholestatic Liver Disease
|
|
|
Abnormal Subcutaneous Fat Tissue Distribution
|
|
|
Acute Retention Of Urine
|
|
|
Arterial Thrombosis
|
|
|
Asymmetry Of The Thorax
|
|
|
Calvarial Hyperostosis
|
|
|
Central Heterochromia
|
|
|
Colon Diverticulum Anatomic Structure
|
|
|
Disproportionate Tall Stature
|
|
|
Facial Asymmetry
|
|
|
Facial Hyperostosis
|
|
|
Generalized Hyperkeratosis
|
|
|
Hyperplasia
|
|
|
Irregular Hyperpigmentation
|
|
|
Muscular Atrophy
|
|
|
Narrow Internal Auditory Canal
|
|
|
Negativism
|
|
|
Neurogenic Muscular Atrophy
|
|
|
Progressive Macrocephaly
|
|
|
Severe Congenital Neutropenia
|
|
|
Skin Papule
|
|
|
Skin Tag
|
|
|
Social And Occupational Deterioration
|
|
|
Abnormal Circulating Insulin Level
|
|
|
Decreased Adiponectin Level
|
|
|
Increased Hepatic Glycogen Content
|
|
|
Increased Intraabdominal Fat
|
|
|
Large Tonsils (Finding)
|
|
|
Abdominal Colic
|
|
|
Elevated Urinary Delta-Aminolevulinic Acid
|
|
|
Lead Poisoning, Susceptibility To
|
|
|
Respiratory Paralysis
|
|
|
Abnormality Of Iron Homeostasis
|
|
|
Increased Erythrocyte Protoporphyrin Concentration
|
|
|
Abdominal Tenderness
|
|
|
Acidosis, Respiratory
|
|
|
Albumin B Phenotype
|
|
|
Albumin Blenheim Phenotype
|
|
|
Allergy To Penicillin
|
|
|
Analbuminemia
|
|
|
Analbuminemia Baghdad
|
|
|
Atrial Tachycardia
|
|
|
Breast Cancer Lymphedema
|
|
|
Consciousness Disorders
|
|
|
Cow Milk Allergy
|
|
|
Delayed Hypersensitivity
|
|
|
Fat Redistribution
|
|
|
Flatulence
|
|
|
Gastrointestinal Wall Thickening
|
|
|
Headache Associated With Sexual Activity
|
|
|
Hepatic Insufficiency
|
|
|
Hiv Seropositivity
|
|
|
Hunger Vital Sign
|
|
|
Hyperemesis Gravidarum
|
|
|
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
|
|
|
Parastomal Hernia
|
|
|
Pharyngocutaneous Fistula
|
|
|
Postoperative Septic Shock
|
|
|
Protein-Energy Malnutrition
|
|
|
Recurrent Lower Respiratory Tract Infection
|
|
|
Cheyne-Stokes Respiration
|
|
|
Abnormality Of Pain Sensation
|
|
|
Abnormality Of The Dorsal Column Of The Spinal Cord
|
|
|
Accidental Falls
|
|
|
Carpal Bone Hypoplasia
|
|
|
Dysfunction Of Lateral Corticospinal Tracts
|
|
|
Generalized Joint Laxity
|
|
|
Hyperactive Patellar Reflex
|
|
|
Hyperreflexia In Upper Limbs
|
|
|
Increased Frequency Of Micturition
|
|
|
Lower Limb Hypertonia
|
|
|
Lower Limb Spasticity
|
|
|
Migraine
|
|
|
Narrow Nasal Ridge
|
|
|
Orbital Separation Diminished
|
|
|
Pain In Lower Limb
|
|
|
Primitive Reflex
|
|
|
Primitive Reflexes (Palmomental, Snout, Glabellar)
|
|
|
Progressive Gait Ataxia
|
|
|
Progressive Inability To Walk
|
|
|
Progressive Pes Cavus
|
|
|
Prominent Superficial Blood Vessels
|
|
|
Skin Wrinkling
|
|
|
Wide Cranial Sutures
|
|
|
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
|
|
|
Thoracic Kyphosis
|
|
|
Hydroxyprolinuria
|
|
|
Focal Neurologic Deficits
|
|
|
Neurologic Dysfunction
|
|
|
Neurologic Manifestations
|
|
|
Neurologic Signs
|
|
|
Bodily Pain
|
|
|
Circling Gait
|
|
|
Prenatal Movement Abnormality
|
|
|
Aldh9A1*2 Polymorphism
|
|
|
Normochromic Anemia
|
|
|
Bicarbonaturia
|
|
|
Episodic Hyperhidrosis
|
|
|
Hypermagnesemia
|
|
|
Hypermagnesemia, Ctcae
|
|
|
Hyperuricosuria
|
|
|
Proximal Tubulopathy
|
|
|
Reduced Aldolase Level
|
|
|
Transient Aminoaciduria
|
|
|
Abnormal Amniotic Fluid
|
|
|
Abnormal Delivery
|
|
|
Abnormality Of Immune System Physiology
|
|
|
Encephalopathy
|
|
|
Metatarsalgia
|
|
|
Moderate Intrauterine Growth Retardation
|
|
|
Primary Caesarian Section
|
|
|
Temperature Instability
|
|
|
Transferrin Isoform Profile
|
|
|
Eeg With Burst Suppression
|
|
|
Butterfly Vertebrae
|
|
|
Partial Thromboplastin Time Increased (Finding)
|
|
|
Short Ribs
|
|
|
Short Tibia
|
|
|
Favorable Response Of Weakness To Acetylcholine Esterase Inhibitors
|
|
|
Increased Jitter At Single Fibre Emg
|
|
|
Muscle Fiber Tubular Inclusions
|
|
|
Long Fingers
|
|
|
Interleukin 10 Measurement
|
|
|
Elevated Serum Transaminases During Infections
|
|
|
Reduced Factor Xi Activity
|
|
|
Abnormal Isoelectric Focusing Of Serum Transferrin
|
|
|
Convex Nasal Ridge
|
|
|
Narrow Sacrosciatic Notch
|
|
|
Periportal Fibrosis
|
|
|
Underdeveloped Nasal Alae
|
|
|
Cicatrix
|
|
|
Elevated Urinary Catecholamines
|
|
|
Granulocyte Colony Stimulating Factor Measurement
|
|
|
Granuloma, Plasma Cell
|
|
|
Neoplasm Recurrence, Local
|
|
|
Neuroblastoma
|
|
|
Severe Cutaneous Adverse Reactions (Smq)
|
|
|
Abnormally Large Globe
|
|
|
Childhood-Onset Truncal Obesity
|
|
|
Mild Short Stature
|
|
|
Small Testicle
|
|
|
External Genital Hypoplasia
|
|
|
Paralysed
|
|
|
Multiple Organ Failure
|
|
|
Response To Epirubicin
|
|
|
Dysbiosis
|
|
|
Decreased Calvarial Ossification
|
|
|
Disproportionate Short-Limb Short Stature
|
|
|
Elevated Plasma Pyrophosphate
|
|
|
Elevated Urine Pyrophosphate
|
|
|
Increased Susceptibility To Fractures
|
|
|
Inorganic Phosphate Measurement
|
|
|
Low Alkaline Phosphatase
|
|
|
Metaphyseal Cupping
|
|
|
Phosphorus Measurement
|
|
|
Precocious Exfoliation Of Primary Tooth
|
|
|
Premature Loss Of Permanent Teeth
|
|
|
Short Leg
|
|
|
Skin Dimple Over Apex Of Long Bone Angulation
|
|
|
Stillbirth
|
|
|
Unossified Vertebral Bodies
|
|
|
Vertebral Clefting
|
|
|
Vitamin B12 Measurement
|
|
|
Hepatic Necrosis
|
|
|
Abnormal Lower Motor Neuron Morphology
|
|
|
Abnormality Of The Bladder
|
|
|
Abnormality Of The Corticospinal Tract
|
|
|
Difficulty In Tongue Movements
|
|
|
Emg: Chronic Denervation Signs
|
|
|
Pseudobulbar Behavioral Symptoms
|
|
|
Saccadic Smooth Pursuit
|
|
|
Spasticity Of Facial Muscles
|
|
|
Spasticity Of Pharyngeal Muscles
|
|
|
Aplasia/Hypoplasia Of The Frontal Sinuses
|
|
|
Coloboma Of Superior Eyelid
|
|
|
Preauricular Skin Tag
|
|
|
Prominent Glabella
|
|
|
Sparse Eyebrow
|
|
|
Sparse Eyelashes
|
|
|
Bifid Nasal Tip
|
|
|
Frontal Cutaneous Lipoma
|
|
|
Widely-Spaced Maxillary Central Incisors
|
|
|
Broad Columella
|
|
|
Broad Philtrum
|
|
|
Fine Hair
|
|
|
Prominent Occiput
|
|
|
Short Palpebral Fissure
|
|
|
Sparse And Thin Eyebrow
|
|
|
Symmetrical, Oval Parietal Bone Defects
|
|
|
Bilateral Single Transverse Palmar Creases
|
|
|
Dental Enamel Pits
|
|
|
Bacteriuria
|
|
|
Flank Pain
|
|
|
Choroidal Retinal Neovascularization
|
|
|
Vitreomacular Adhesion
|
|
|
Fibular Aplasia
|
|
|
Fibular Hypoplasia
|
|
|
Flexion Contracture Of Toe
|
|
|
High Iliac Wings
|
|
|
Natal Teeth
|
|
|
Paranasal Sinus Hypoplasia
|
|
|
Acute Postoperative Pain
|
|
|
Anovulation
|
|
|
Isosexual Precocious Puberty
|
|
|
Menopausal Symptom
|
|
|
Numbness
|
|
|
Stage, Endometrial Carcinoma
|
|
|
Abnormal Renal Function
|
|
|
Broad Distal Phalanx Of Finger
|
|
|
Large Forehead
|
|
|
Obsolete Abnormal Heart Morphology
|
|
|
Small Midface
|
|
|
Anasarca
|
|
|
Extravasation Of Contrast Media
|
|
|
Hypesthesia
|
|
|
Malabsorption Of Vitamin B12
|
|
|
Excessive Daytime Sleepiness
|
|
|
Exercise-Induced Muscle Fatigue
|
|
|
Increased Muscle Fatiguability
|
|
|
Facial Hypotonia
|
|
|
Gait, Scissors
|
|
|
Short Upper Lip
|
|
|
Qrs Complex Feature
|
|
|
Systolic Blood Pressure Measurement
|
|
|
Hyperglycinemia
|
|
|
Recurrent Singultus
|
|
|
Emotional Abuse
|
|
|
Pain In Children
|
|
|
Restlessness
|
|
|
Urinary Incontinence Of Non-Organic Origin
|
|
|
Qt Interval Feature (Observable Entity)
|
|
|
Acute-Phase Reaction
|
|
|
Fatigable Weakness Of Swallowing Muscles
|
|
|
Corneal Thickening
|
|
|
Decreased Ldl Cholesterol Concentration
|
|
|
Hepatic Impairment
|
|
|
Plasma Triglyceride Level Quantitative Trait Locus
|
|
|
Abnormal Circle Of Willis Morphology
|
|
|
Abnormality Of Brainstem Morphology
|
|
|
Ankle Brachial Pressure Index (Observable Entity)
|
|
|
Calcium Pyrophosphate Dihydrate Deposition
|
|
|
Chills
|
|
|
Extramedullary Hematopoiesis
|
|
|
Hypoalgesia
|
|
|
Increased Mean Corpuscular Hemoglobin Concentration
|
|
|
Increased Red Cell Osmotic Fragility
|
|
|
Maculopapular Lesion
|
|
|
Sacral Dimple
|
|
|
Spherocytosis
|
|
|
Electrocardiogram Change
|
|
|
Premature Cardiac Complex
|
|
|
Bruxism
|
|
|
Abnormality Of The Vertebral Column
|
|
|
Bony Paranasal Bossing
|
|
|
Calcification Of Cartilage
|
|
|
Calvarial Osteosclerosis
|
|
|
Club-Shaped Distal Femur
|
|
|
Nasal Obstruction Present Finding
|
|
|
Manic Symptom
|
|
|
Ritual Compulsion
|
|
|
Frontal Lobe Hypoplasia
|
|
|
Cutaneous Syndactyly
|
|
|
Exaggerated Cupid'S Bow
|
|
|
Macrodontia
|
|
|
Persistent Open Anterior Fontanelle
|
|
|
Prominent Fingertip Pads
|
|
|
Proximal Placement Of Thumb
|
|
|
Vertebral Arch Anomaly
|
|
|
Oral Lesion
|
|
|
Interferon Alpha Measurement
|
|
|
Anti-Nuclear Factor Positive
|
|
|
Elevated C-Reactive Protein Level
|
|
|
Esr Raised
|
|
|
Cortisol Measurement
|
|
|
Edema Disease
|
|
|
Reduced Ejection Fraction
|
|
|
Response To Ace Inhibitor
|
|
|
Enlarged Kidney
|
|
|
Cancer Angiogenesis
|
|
|
Dumping Syndrome
|
|
|
Abnormal Enzyme/Coenzyme Activity
|
|
|
Downbeat Nystagmus
|
|
|
Hypermetric Saccades
|
|
|
Leg Muscle Stiffness
|
|
|
Tortuosity Of Conjunctival Vessels
|
|
|
Estradiol Level Result
|
|
|
Estradiol Measurement
|
|
|
Abnormality Of The Larynx
|
|
|
Cervical Dystonia
|
|
|
Oromandibular Dystonia
|
|
|
Upper Limb Postural Tremor
|
|
|
Vocal Tremor
|
|
|
Acquired Genu Recurvatum
|
|
|
Blood Thyroid Stimulating Hormone Analysis
|
|
|
Bowing Of The Long Bones
|
|
|
Calf Muscle Pseudohypertrophy
|
|
|
Calf Muscle Weakness
|
|
|
Cardiac Troponin I Measurement
|
|
|
Diaphyseal Cortical Sclerosis
|
|
|
Emg: Axonal Abnormality
|
|
|
Emg: Myotonic Runs
|
|
|
Fatty Replacement Of Skeletal Muscle
|
|
|
Internally Nucleated Skeletal Muscle Fibers
|
|
|
Lower Limb Amyotrophy
|
|
|
Myoglobinuria
|
|
|
Pelvic Girdle Weakness
|
|
|
Proximal Muscle Weakness In Lower Limbs
|
|
|
Proximal Muscle Weakness In Upper Limbs
|
|
|
Thickened Cortex Of Long Bones
|
|
|
Factor X Activation Deficiency
|
|
|
Absence Of Pubertal Development
|
|
|
Absence Of Secondary Sex Characteristics
|
|
|
Decreased Circulating Follicle Stimulating Hormone Level
|
|
|
Decreased Circulating Luteinizing Hormone Level
|
|
|
Decreased Fertility
|
|
|
Decreased Serum Testosterone Level
|
|
|
Eunuchoid Habitus
|
|
|
Hypothalamic Gonadotropin-Releasing Hormone Deficiency
|
|
|
Increased Female Libido
|
|
|
Leydig Cell Insensitivity To Gonadotropin
|
|
|
Olfactory Lobe Agenesis
|
|
|
Sparse Pubic Hair
|
|
|
Mucosal Erosion
|
|
|
Early Balding
|
|
|
Prominent Scalp Veins
|
|
|
Underdeveloped Supraorbital Ridges
|
|
|
Unerupted Tooth
|
|
|
Abnormality Of Skin Morphology
|
|
|
Abnormality Of The Gastrointestinal Tract
|
|
|
Aplasia/Hypoplasia Of The Skin
|
|
|
Generalized Bone Demineralization
|
|
|
Hemifacial Spasm
|
|
|
Limited Neck Range Of Motion
|
|
|
Osteolysis
|
|
|
Weight Less Than 3Rd Percentile
|
|
|
Transferrin Saturation Measurement
|
|
|
Surfactant Protein D Measurement
|
|
|
Aggregated Erythrocytes
|
|
|
Pregnancy Loss, Recurrent
|
|
|
Recurrent Spontaneous Abortion
|
|
|
Stage, Pancreatic Cancer
|
|
|
Pelvic Pain
|
|
|
Pelvic Pain Female
|
|
|
Food Allergy
|
|
|
Abnormality Of Copper Homeostasis
|
|
|
Abnormality Of The Intestine
|
|
|
Decreased Serum Ceruloplasmin
|
|
|
Fried Syndrome
|
|
|
Hypocalciuria
|
|
|
Parathormone-Independent Increased Renal Tubular Calcium Reabsorption
|
|
|
Aberrant Melanosome Maturation
|
|
|
Blonde Hair
|
|
|
Fair Hair
|
|
|
Familial Hemophagocytic Lymphocytosis
|
|
|
Urinary Bladder, Underactive
|
|
|
Everted Upper Lip Vermilion
|
|
|
Shyness
|
|
|
Prominent Antihelix
|
|
|
Stuttering
|
|
|
Gliosis
|
|
|
Wide Nasal Ridge
|
|
|
Abnormality Of The Cervical Spine
|
|
|
Aberrant Crypt Foci
|
|
|
Abnormality Of The Musculature
|
|
|
Absent Fingernail
|
|
|
Absent Toenail
|
|
|
Adenomatous Colonic Polyposis
|
|
|
Breast Cancer
|
|
|
Cafe-Au-Lait Spots
|
|
|
Crossed Fused Renal Ectopia
|
|
|
Familial Adenomatous Polyposis
|
|
|
Foot Oligodactyly
|
|
|
Gastrointestinal Polyps
|
|
|
Increased Level Of L-Fucose In Urine
|
|
|
Intestinal Hemorrhage Nos
|
|
|
Macronodular Adrenal Hyperplasia
|
|
|
Multiple Unerupted Teeth
|
|
|
Posterior Polar Cataract
|
|
|
Renal Hypoplasia/Aplasia
|
|
|
Subacute Progressive Viral Hepatitis
|
|
|
Synostosis Of Carpal Bones
|
|
|
Ulnar Hypoplasia
|
|
|
Visual Acuity, No Light Perception
|
|
|
Hypotrichosis
|
|
|
Micronuclei, Chromosome-Defective
|
|
|
Micronuclei, Genotoxicant-Induced
|
|
|
Ascending Aortic Dilatation
|
|
|
Feeling Despair
|
|
|
Adolescent Overweight
|
|
|
Apolipopropretin A-I Phenotype
|
|
|
Cardiac Death
|
|
|
Childhood Overweight
|
|
|
Determination Of Death
|
|
|
Generalized Amyloid Deposition
|
|
|
Infant Overweight
|
|
|
Infantile Obesity
|
|
|
Apolipoprotein A-Iv Polymorphism, Apoa4*1/Apoa4*2 Phenotype
|
|
|
Hyperchylomicronemia
|
|
|
Increased Vldl Cholesterol Concentration
|
|
|
Serum Triglycerides Increased
|
|
|
Apolipoprotein B Assay
|
|
|
Eyelids (Symptom)
|
|
|
Fat Intolerance
|
|
|
Apolipoprotein C-Ii (Wakayama) Phenotype
|
|
|
Apolipoprotein C-Ii Phenotype
|
|
|
Apolipoprotein C-Iii, Nonglycosylated Phenotype
|
|
|
Increased Hdl Cholesterol Concentration
|
|
|
Phosphatidylinositol Measurement
|
|
|
Hypodynamia
|
|
|
Hypokinesia, Antiorthostatic
|
|
|
Abnormality Of Lipid Metabolism
|
|
|
Absent Axillary Hair
|
|
|
Apoe2 Variant Phenotype
|
|
|
Apoe2-Dunedin Phenotype
|
|
|
Apoe3(-)-Freiburg Phenotype
|
|
|
Apoe4 Variant Phenotype
|
|
|
Apoe4(+) Phenotype
|
|
|
Apoe5 Variant
|
|
|
Apolipoproteins E Measurement (Procedure)
|
|
|
Arterial Fatty Streak
|
|
|
Arthrosclerosis
|
|
|
Atheroma
|
|
|
Carotid Ulcer
|
|
|
Communication Impairment
|
|
|
Daytime Somnolence
|
|
|
Delirium Co-Occurrent With Dementia
|
|
|
Foveal Hypopigmentation
|
|
|
Illusions
|
|
|
Imbalance Of Constituents Of Food Intake
|
|
|
Intensive Care Unit Delirium
|
|
|
Loss Of Memory Ability
|
|
|
Macular Drusen
|
|
|
Mesangial Proliferation
|
|
|
Middle Age Onset
|
|
|
Parietal Hypometabolism In Fdg Pet
|
|
|
Plaque, Atherosclerotic
|
|
|
Prodromal Period
|
|
|
Prodromal Stage
|
|
|
Prodrome
|
|
|
Pulmonary Infiltrate
|
|
|
Sensory Denervation Disorder
|
|
|
Sleep-Wake Cycle Disturbance
|
|
|
Soft Neurological Signs
|
|
|
Visuospatial Deficit
|
|
|
Antiphospholipid Antibodies Measurement
|
|
|
Lactase Persistence
|
|
|
Nephrotic Syndrome
|
|
|
Catch - Finding Of Sensory Dimension Of Pain
|
|
|
Amnesia
|
|
|
Brain Hemorrhage
|
|
|
Cerebral Amyloid Angiopathy
|
|
|
Dissociative Amnesia
|
|
|
Global Amnesia
|
|
|
Hysterical Amnesia
|
|
|
Premature Ejaculation
|
|
|
Tactile Amnesia
|
|
|
Temporary Amnesia
|
|
|
Todd Paralysis
|
|
|
Tortuous Cerebral Arteries
|
|
|
Axonal Degeneration
|
|
|
Decreased Number Of Large Peripheral Myelinated Nerve Fibers
|
|
|
Multiple System Atrophy
|
|
|
Peripheral Axonal Degeneration
|
|
|
Colton-Null Phenotype
|
|
|
Endotoxic Shock
|
|
|
Equilibration Disorder
|
|
|
Impairment Of Urinary Concentration
|
|
|
Intractable Nausea And Vomiting
|
|
|
Neurological Disability
|
|
|
Visual Phenomena
|
|
|
Abnormal Blistering Of The Skin
|
|
|
Glycerol Quantitative Trait Locus
|
|
|
Absent Facial Hair
|
|
|
Absent Pubic Hair
|
|
|
Aplasia/Hypoplasia Of The Fallopian Tube
|
|
|
Chronic Back Pain
|
|
|
Craving For Alcohol
|
|
|
Elevated Circulating Follicle Stimulating Hormone Level
|
|
|
Elevated Circulating Luteinizing Hormone Level
|
|
|
Female External Genitalia In Individual With 46,Xy Karyotype
|
|
|
Female Virilization
|
|
|
Gender Dysphoria
|
|
|
Idiopathic Hirsutism
|
|
|
Joint Tenderness
|
|
|
Labial Hypoplasia
|
|
|
Prostate Cancer
|
|
|
Urethral Stenosis
|
|
|
Urinary Symptoms
|
|
|
Uterus Absent (Finding)
|
|
|
Insulin Measurement
|
|
|
Emotional Stress
|
|
|
Mucous Membrane Hyperplasia
|
|
|
Hypercapnia
|
|
|
Intestinal Fistula
|
|
|
Orotic Aciduria
|
|
|
Trisomy 12
|
|
|
Abnormal Number Of Permanent Teeth
|
|
|
Abnormality Of Dental Eruption
|
|
|
Agenesis
|
|
|
Bilateral Cleft Palate
|
|
|
Nonsyndromic Cleft Lip With Or Without Cleft Palate
|
|
|
Palate Fistula
|
|
|
Peg-Shaped Maxillary Lateral Incisors
|
|
|
Speech Articulation Difficulties
|
|
|
Absence Of Hand
|
|
|
Aplasia Cutis Congenita On Trunk Or Limbs
|
|
|
Aplastic/Hypoplastic Toenail
|
|
|
Maladjustment
|
|
|
Response To Antineoplastic Agent
|
|
|
Coronary Spastic Angina
|
|
|
Rapidly Progressive
|
|
|
Thin Glomerular Basement Membrane
|
|
|
Onion Bulb Formation
|
|
|
Flasher - Visual Manifestation
|
|
|
Retinal Defect
|
|
|
Discoid Lateral Meniscus
|
|
|
Prodromal Symptoms
|
|
|
Squamous Intraepithelial Lesion
|
|
|
Eeg With Temporal Focal Spikes
|
|
|
Exaggerated Startle Response
|
|
|
Hyperexplexia
|
|
|
Absent Fifth Fingernail
|
|
|
Absent Fifth Toenail
|
|
|
Ectopic Posterior Pituitary
|
|
|
Generalized Hypertrichosis
|
|
|
Macrocephaly
|
|
|
Patellar Aplasia
|
|
|
Slow-Growing Hair
|
|
|
Calcium Level Result
|
|
|
Calcium Measurement
|
|
|
Delayed Eruption Of Primary Teeth
|
|
|
Delayed Fine Motor Development
|
|
|
Dilated Fourth Ventricle
|
|
|
Dry Hair
|
|
|
Dysesthesia
|
|
|
Facial Hypertrichosis
|
|
|
Long Toe
|
|
|
Lumbosacral Hirsutism
|
|
|
Prominent Interphalangeal Joints
|
|
|
Prominent Nasal Tip
|
|
|
Short Sternum
|
|
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Abnormal Shape Of The Frontal Region
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Anterior Pituitary Hypoplasia
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Deep Philtrum
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