37901 to 38000 most common queries

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

• Absence of Auto Antibodies to Intrinsic Factor or Parietal Cells
• Normal Pepsin Secretion
• Gastric Acid Secretion Normal
• Normal Gastric Mucosa
• Vitamin B12 Deficiency due to Intestinal Malabsorption
• Mutation in the Amnionless Gene
• Caused by Mutation in the CUBN Gene
• Pernicious Anemia not due to Intrinsic Factor Deficiency
• Chronic Relapsing Megaloblastic Anemia
• Folic Acid Normal
• Vitamin B12 Decreased
• No Antibodies against Intrinsic Factor
• Intrinsic Factor Protein Normal
• Plasma Levels of Very Long Chain Fatty Acids Increased
• Discrete Calcific Stippling
• Deep Foot Creases
• Short, Broad Hands
• Elbow Mobility Decreased
• Flat Iliac Crest
• Joint Laxity - Except Elbow
• Abnormally Pointed Upper Lateral Incisors
• Agenesis of Maxillary Lateral Incisor
• Small Malformed Ears
• Large Anterior Fontanel at Birth
• Microcephaly (22%)
• Birthweight <3rd Percentile (87%)
• Micromelic Dwarfism
• Adult Female Height: 128-151 cm
• Adult Male Height 141-155 cm
• Abnormal Foreskin
• Mousy Odor
• Mutation in the Phenylalanine Hydroxylase Gene
• Maternal Teratogenic Hyperphenylalaninemia
• Defective Myelin Formation if Left Untreated
• Seizures - If Left Untreated
• Deep Tendon Reflexes Increased if Left Untreated
• Purposeless Movements (if Untreated)
• Abnormal Limb Posturing (if Untreated)
• Peculiar Stance and Sitting Posture (if Untreated)
• Peculiar Gait (if Untreated)
• Infantile Irritability (if Untreated)
• Reticular Hyperpigmentation (Neck)
• Conical Crown Form
• Survival to 5 15 Years of Age
• Onset of Acanthosis Nigricans Correlates with Onset of Diabetes
• Mutation in the INSR Gene
• Lichenified Skin
• Fasting Hypoglycemia (early in Disease Course)
• Postprandial Hyperglycemia
• Dental Dysplasia
• Large, Fissured Tongue
• Weight <5th Percentile
• Pineal Hypertrophy
• Altered Melatonin Secretion
• Bile Duct Dilation and Proliferation
• Absence of Renal Corticomedullary Differentiation
• Increased Echogenicity of Entire Parenchyma
• Mean Age at Diagnosis 16 Years
• Mutation in the VHL Gene
• Vertebral Hemangiomas
• Leukocyte and Platelet Counts Normal
• Increased Serum Plasminogen Activator Inhibitor 1 (PAI1-173360)
• Vascular Endothelial Growth Factor Increased
• Erythropoietin Increased (EPO)
• Bifid Metatarsal
• Pointed Distal Phalanges
• Short, Pointed Phalanges
• Fused Vertebrae - Cervical Thoracic Lumbar
• Short Roots
• Small Lobes
• Allelic Disorder to Glycogen Storage Disease Type 4
• Onset after Age 40 Years
• Glycogen-Branching Enzyme Activity Decreased or Absent
• Polyglucosan Bodies in Neuronal and Astrocytic Processes
• Pyramidal Tetraparesis
• Mutation in the UROS Gene
• Mutilating Skin Deformity
• Pink Urine
• Uroporphyrinogen III Cosynthase Deficiency in Blood and Fibroblasts
• Red-Stained Teeth
• Porphyrin-Rich Gallstones
• Autosomal Recessive and Dominant Pedigrees Described
• Absence of Fifth Digit
• In-Curving Forearms
• Rib Defects
• Caused by Mutations in the Peroxisomal Acyl-CoA-Oxidase Gene
• Plasmalogen Normal
• Absence of Flash Visual-Evoked Responses
• Flattened or Absent Electroretinogram
• Liver Biopsy Shows Normal Numbers of Enlarged Peroxisomes
• Diffuse Hepatic Steatosis
• White Matter Hypodensities and Demyelination
• Neurologic Regression after Age 2 Years
• Focal Interictal Epileptiform Discharges
• Multiple Pigmented Nevi
• Poorly Developed Palmar Creases
• Protruding Calcaneus
• Short 3rd 4th Toes
• Short Metacarpals - 4th-5th
• Hypoplastic Thenar Hypothenar and Interdigital Eminences