24401 to 24500 most common queries

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

• Fusion of the Fifth Middle and Distal Phalanges
• Shortness of the Fourth and Fifth Metacarpals
• Lack of the Distal Interphalangeal Crease in the Fourth Fingers
• Single Flexion Crease in the Fifth Fingers
• Monarticular or Oligoarticular Arthritis
• Anteverted Auricles
• Generalized Hypotonia
• Onset of Seizures in Infancy or Early Childhood
• Continuous Spike Waves during Slow Wave Sleep
• Centrotemporal Spike-and-Slow-Waves
• Secondary Seizures
• Cognitive Development Delayed
• Auricular Meatal Atresia
• Urinary Excretion of Neutral 17-Ketosteroids Low
• Ovaries Lack Follicles
• Atrophy of the Spinal Cord and Cerebellar Tracts
• Caused by Mutation in the Cathepsin C Gene
• Obligatory Heterozygotes Are Clinically Unaffected
• Desmosomal Disks Observed in Upper Granular Layers
• Variation in Amount Size and Ultrastructure of Keratohyaline Granules
• Thickened Granular Layer
• Orthohyperkeratosis of Horny Layer
• Tonofibrils Increased
• Granular Layer Focally Broadened
• Transgression of Hyperkeratosis to Dorsum of Hands and Feet
• Bluish-Red Border Demarcating Transition to Normal Skin
• Neonatal Dyspnea
• Mutation in the ATPase Class I Type 8B Member 1 Gene
• Congenital Cystic Adenomatoid Malformation
• IgM Immunodeficiency
• Granulation Tissue
• Mucous Membrane Ulceration
• Prenatal Ultrasound Shows Bowel Distention
• Multiple Areas of Atresia Along the Small and Large Intestines
• Common Bile Duct Dilation
• Bone Deformities due to Untreated Fractures
• Oral Protein-Induced Hypoglycemia
• Intermittent Severe Hypoglycemia
• Alternating Strabismus
• High Birth Weight
• Transient Ataxia
• About 50% of Mutation Carriers Are Asymptomatic
• May Be Benign Condition
• Mutation in the Alpha Aminoadipic Semialdehyde Synthase Gene
• Aminoadipic Semialdehyde Synthase Deficiency
• Lysine-Ketoglutarate Reductase Deficiency
• Serum, Cerebrospinal Fluid, and Urine Saccharopine Increased
• Plasma and Urine Ornithine Decreased
• Plasma and Urine Pipecolic Acid Increased
• Cerebrospinal Fluid, Serum and Urinary Lysine Increased
• Renal or Metabolic Acidosis
• Responsive to Cobalamin
• Homocystinemia
• Mutation in the Hexokinase 1 Gene
• Hemihyperplasia of Feet
• Muscle Hypertrophy in Affected Area
• Fatal without Lung Transplant
• Onset Usually in 3rd Decade
• Intimal Remodeling of the Pulmonary Artery
• Pulmonary Capillary Proliferation and Dilation
• Fibrous Intimal Proliferation of Septal Veins and Preseptal Venules
• Biopsy Shows Pulmonary Venoocclusive Disease
• Lymph Node Enlargement Seen on CT
• Septal Lines Seen on CT
• Ground Glass Opacities
• Occult Alveolar Hemorrhage
• Carbon Monoxide Diffusion Capacity Decreased
• Mutation in the Muscle Glycogen Phosphorylase Gene
• Dark Urine Following Exercise
• Skeletal Muscle Weakness
• Mutation in the Amylo-1,6-Glucosidase, 4-Alpha-Glucanotransferase Gene
• Abnormal Cardiovascular Reflexes due to Autonomic Dysfunction
• Dermal Melanocytosis
• High Incidence of E Coli Sepsis in Untreated Neonates
• Abnormal Speech (if Untreated)
• Solitary Disease Is More Common in Males
• Tumors May Show Spontaneous Regression
• Mutation in the PDGFRB Gene
• Benign Soft Tissue Developmental Anomalies
• Myofibromatosis Affecting Skin, Muscle, Bone and Viscera
• Early Death
• Onset in Infancy or First Years of Life
• Hoarse Cry due to Laryngeal Involvement
• Nodules Show Lipid-Laden Macrophages
• Histiocytic Infiltration of Liver, Spleen and Lungs
• Urine Ceramide Levels Elevated
• Macular Cherry Red Spots
• Muscular Dystrophy with Variable Age of Onset
• Central Respiratory Failure
• Little Spontaneous Breath
• Osteoporosis (Classic Feature)
• Learning Difficulties (Classic Feature)
• Anemia May Improve upon IFN-Alpha Treatment
• Mutation in the Codanin 1 Gene
• Spongy Heterochromatin Clumps
• Internuclear Chromatin Bridges
• Multinuclear Erythroblasts
• Polychromasia in Peripheral Blood Smear
• Sensitivity to Hypoxemia Decreased
• Mutation in the GNPAT Gene