47201 to 47300 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Planovalgus
• Lens Instability
• If Untreated, Death Usually Occurs in Infancy or Childhood
• Broad Severely Shortened Ulna
• Patchy Reticular Stains
• Complement Factor B Decreased
• Small Papules on Sun Exposed Areas
• Heteroplasmic Partial Duplication of mtDNA
• Trichorrhexis Nodora-Like Anomaly
• Blast Cells Present
• Separate Triphalangeal Thumb
• Solitary Disease Is More Common in Males
• Iron Deposition in Acinar Cells
• Skin Tags on Genitalia
• Veterinarian
• Liver Copper High
• Atopic Disorders (Eczema, Food Allergy, Asthma)
• Mutation in the Alpha 2 Subunit of Collagen Type 9 Gene
• Synovitis
• Sparse to No Body Hair
• Subepithelial Fibrin Deposition with Inflammation of Mucosal Tissues
• Broad, Shortened Radius
• Depletion of Complement Components
• Urinary Loss of Potassium, Sodium, Calcium and Chloride
• Villous Atrophy (Biopsy)
• Thick, Loose, Doughy Skin
• Tumors May Show Spontaneous Regression
• 1-5 Finger Complete Cutaneous Syndactyly
• Giant Cell Transformation
• Mixed Demyelinating and Axonal Polyneuropathy
• Average Adult Height
• Acalculous Cholecystitis
• Bilateral Pterygia
• Oral Ulcers
• Plasminogen Activity Decreased
• Complement Factor I Decreased
• Approximately Half of Cases Are due to De Novo Deletions
• Large, Dysmorphic Ears
• Frequently Death in Infancy
• Additional Features Vary
• Sparse to No Eyebrows
• Mutation in the PDGFRB Gene
• Increased Risk of Meningioma
• Cup Shaped Hand
• Atlantoaxial Subluxation
• Endocrine Glands with Iron Deposition
• Only 46,XY Karyotypes Are Affected
• Consumption of Raw or Undercooked Beef
• Bilateral Pterygium of Wrist
• Patients May Become Ventilator-Dependent
• Malformed Earlobes
• Plasminogen Antigen Decreased
• Platelet Count Abnormal
• Caused by a Deletion of Chromosome 9p
• Deletion of mtDNA
• Axonal Dystrophy
• 2nd/3rd or 4th/5th Toe Syndactyly
• Macrocephaly, Progressive in Infancy
• Benign Soft Tissue Developmental Anomalies
• Mutation in the CEP152 Gene
• Xanthine Urolithiasis
• Rudimentary Mullerian Structures
• Bilateral Pterygium of Elbow
• Fetal Infection
• Congenital Bleeding Diathesis
• Congenital Cardiac Malformations
• Contractures Hand and Finger Muscles
• Severe Gingivitis
• Peripheral Blood Smear Abnormal
• Asymmetric Somatic Overgrowth
• Plasma Ketone Body or Lactate : Pyruvate Ratios Increased
• Dysphonia due to Muscle Weakness
• Enlarged Ventricles
• Myofibromatosis Affecting Skin, Muscle, Bone and Viscera
• Microcephaly - 5 to 7 SD below the Mean
• Partial Soft Tissue Syndactyly
• Light Fine Hair
• Increase in Pregnanediol and Pregnanetriol after ACTH Stimulation
• Bilateral Inguinal Pterygium
• Scapuloperoneal Muscular Atrophy due to Denervation
• Subcutaneous Emphysema of the Neck
• Normal Platelet Aggregation with ADP, Collagen, Epinephrine
• Brown or Blond Hair
• Endoscopic Ultrasound showing Pancreatic Mass
• Mitochondrial Deletions
• Migratory Ichthyosiform Dermatosis
• Brain Size Reduced
• Contiguous Gene Duplication on Xq26.3
• Early Death
• Variable Cutaneous Syndactyly
• Formation of Mucosal Pseudomembranes That Progress to Plaques
• Marked Increase in Pregnanetriolone after HCG or ACTH Stimulation
• EMG Shows Myotonic Changes
• Cortical Dysgenesis
• Bilateral Axillary Pterygium
• Subcutaneous Free Air
• Platelet Glycoprotein Ib Complex Reduced
• Sural Nerve Biopsy Shows Normal Findings
• MRI Scan showing Pancreatic Lesion
• Elevated Androstenedione