22001 to 22100 most common queries

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

• Recurrence of Symptoms after Cholecystectomy
• Onset Usually before Age 40 Years
• Bile Shows Increased Cholesterol : Phospholipid Ratio
• Bile Contains Cholesterol Crystals
• Periportal Macrophage Infiltration
• Intrahepatic Sludge
• Caused by Mutation in the Janus Kinase 3 Gene
• Pendred Syndrome, Deafness with Goiter
• Hearing Loss is Pre- or Perilingual in Onset
• Cochlear Malformation Defect
• Vestibular Abnormalities
• No Predisposition to Skin Tumor Development
• Os odontoideum and Atlanto-Axial Instability
• Dysplastic Nails - 1st and 2nd Toes
• No Abnormalities of Sweating
• Hypoplastic Nails of Affected Digits
• Normal Great Toes
• Absent or Hypoplastic Toes
• Duplication of Metacarpal IV
• Partial Distal Aphalangia
• Childhood Onset May Occur
• Lack of Inflammation
• Normal Acini Are Replaced with Honeycombed Cysts
• Mutation in the TRPV4 Gene
• Variable Respiratory Chain Enzyme Deficiency
• Mutant mtDNA Threonine Transfer RNA Gene of Questionable Etiology
• Number of Small Megakaryocytes Decreased
• Platelet Function Decreased
• Platelets Have Decreased Alpha Granules
• Imbalanced Hemoglobin Chain Synthesis
• UROS Activity Decreased
• Mutation in the OTC Gene
• Plasma Asparagine High
• Caused by Mutation in the OFD1 Protein Gene
• Caused by Mutation in the Nyctalopin Gene (NYX)
• Stationary Night Blindness
• Abnormally Shaped Mitochondria in Subsarcolemmal Areas
• Axonal Motor Neuropathy
• Mutation in the HDAC8 Gene
• High Malar Bones
• Mutation in the HCFC1 Gene
• Mutation in the Bruton Tyrosine Kinase Gene
• Female Carriers May Have Mild Hearing Impairment
• Mutation in the POU Domain Class 3 Transcription Factor 4 Gene
• Angle of Nasal Bridge Decreased
• Leakage of Fluid if the Stapes is Disturbed
• Onset of Choroideremia in Second to Third Decade
• Wide Bulbous Internal Auditory Meatus
• NCV Normal
• Mutation in the ATP2B3 Gene
• Dramatic Late Catch-Up Growth Occurs in Adolescence
• Striking Intrafamilial Variability
• Caused by Mutation in the Tafazzin Gene
• Nasal Quality to Speech
• Noncompaction of Left Ventricle
• Mild Organic Aciduria
• Spontaneous Abortions in Carrier Mothers Increased
• Death Usually in Infancy due to Respiratory Failure
• Bone Fractures - at Birth and Postnatal
• Denervation of Skeletal Muscles
• Neurogenic Atrophy Affecting both Fibers Types (Muscle Biopsy)
• Mutation in the Amelogenin Gene
• Normal Dentin
• Vertical Ridges on Enamel
• Wide Spacing between Teeth
• Hard Enamel
• Soft Enamel
• Hypomineralization of Enamel
• Severe Disability in Adulthood
• Levodopa Induces Mild Improvement of Motor Symptoms
• Affected Males Are Somatic Mosaic for Mutations
• Caused by Mutation in the WD Repeat-Containing Protein 45 Gene
• Intrafamilial Variability in Severity of Hypothyroidism
• Mutation in the IGSF1 Gene
• Average Height in Adulthood
• Delayed Growth Spurt in Puberty
• Enlarged Testicles in Adulthood
• Normal Testicular Volume in Childhood
• Testosterone Levels in Adulthood Normal
• Testosterone Increase in Puberty Delayed
• Repeated First-Trimester Abortions in Mothers
• Mutation in the Cytochrome C Oxidase Subunit VIIb Gene
• Ventricular Hypertrophy
• Uninvolved Unremarkable Skin
• No Intraepidermal or Subepidermal Cleavage in Perilesional Skin
• Perilesional Regeneration of Dermis
• Mild Perivascular Lymphocyte Infiltrate in Perilesional Skin
• Patchy Erythroderma on Cheeks and Chin
• Reticulolinear Skin Defects Over Face and Neck
• Long Upslanting Palpebral Fissures
• Arched Eyebrows
• Eyelid Closure Limited
• Posteriorly Rotated Ears
• Asymmetric Face
• Reticulolinear Skin Defects Congenital
• Right-Sided Ureteral Duplication
• Left-Sided Renal Agenesis
• Female Carriers May Show Mild Learning Disabilities
• Abnormal Positioning of the Thumbs
• Mutation in the Homolog of the S Cerevisiae ALG13 Gene