28301 to 28400 most common queries

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

• Renal Tubular Phosphate Reabsorption Increased
• FGF23 Increased
• 1,25-Dihydroxycholecalciferol - Calcitriol - Normal to Elevated
• Progressive Deposition of Basic Calcium Phosphate Crystals
• Ectopic Painful Periarticular Calcified Masses
• Swirled Radicular Dentin Deposits
• Disturbed Root Development
• Obliterated Tooth Pulp Cavities
• Conjunctival Whitish Salt-Like Deposits
• Calcinosis of the Renal Parenchyma
• Renal Tubular Phosphate Excretion Decreased
• Profound Sensorineural Deafness
• Environmental Triggers - Cold and Wet Exposure
• No Raynaud Phenomenon
• Subungual Lesions
• No Cutaneous Photosensitivity
• Healed Areas Are Atrophic and Hypopigmented
• Present in Jewish Yemenite Population
• Mutation in the Sterile Alpha Motif Domain Containing Protein 9 Gene
• Massive Calcium Deposition in Mid and Lower Dermis
• Calcified, Ulcerating Nodules
• Myelosuppression Develops on Standard Doses of Thiopurine Drugs
• Decreased Metabolism of Thiopurine Drugs
• Activity of Thiopurine-S-Methyltransferase Decreased
• Mutation in the Phosphodiesterase 11A Gene
• Fibrofatty Replacement of Right Ventricular Myocardium
• Possibly Mild Manifestations of Cushing Syndrome
• Onset in Childhood or Young Adulthood
• Mutation in the PRKAR1A Gene
• Adrenal Glands Normal, Atrophic, or Slightly Enlarged
• ACTH-Independent Hypercortisolemia
• Mutation in the Mitochondrial Ribosomal Protein S16
• Choreoretinal Coloboma
• Abnormal Toenails
• Slender Ulnae
• Height Less than 5th Percentile
• EMG Shows Denervation
• Progressive Distal and Proximal Symmetric Limb Weakness
• Protruding Fissured Tongue
• Hallucinatory Psychosis Develops during Adolescence
• Motor and Sensory Nerve Conduction Velocities Decreased
• Hypomyelinated Fibers
• Axon Degeneration and Regeneration
• Sural Nerve Biopsy Shows Absence of Large Myelinated Fibers
• Severe Peripheral Sensory Neuropathy
• Severe Peripheral Motor Neuropathy
• Axonal Swelling of Spinal Nerve Roots and Cranial Nerves
• Support Standing or Walking Ability by 4-6 Years of Age
• Variable Expressivity, Patients Possibly Clinically Asymptomatic
• Cortisol Does Not Decrease on Dexamethasone Suppression Test
• No Progression to Cancer
• Double Superior Vena Cava
• Pulmonary Hypoplasia Secondary to Diaphragmatic Hernia
• Enlarged Ocular Globes
• Mutation in the TREX1 Gene
• Acrocyanosis of the Feet
• Anterior or Posterior Placement of Anus
• Anomalous Attachment of Gut
• Diaphragmatic Defect Often Unilateral and Left Sided
• Atretic Ureter
• Uterus and Vagina Duplex
• Muscle Pain and Cramps Following Exercise
• A Severe Infantile Variant Has Been Rarely Reported
• Late Adult-Onset Has Been Reported
• Exercise Intolerance Often Evident in Childhood
• Mutation in the Muscle Phosphofructokinase Gene
• No Increase of Muscle Lactate with Ischemic Exercise Testing
• Erythrocyte 2,3-Diphosphoglycerate Decreased
• Gout due to Increased Uric Acid
• Muscle Glycogen Content Increased
• Muscle Fibers May Contain Abnormal Polysaccharide
• Affects 1-2 in 400 Individuals of Northern European Descent
• Iron-Stainable Hepatic Parenchymal Cell Increased
• Patients Do Not Have Clinical Hypothyroidism
• Onset of Other Symptoms in Adolescence or Early Adulthood
• Onset of Mental Impairment in Early Childhood
• Short, Sparse, Fine Hair
• Atrophic Seminiferous Tubules
• Testicular Biopsy Shows Hypospermatogenesis
• MRI Shows Decreased Signal Intensities in the Basal Ganglia
• Failure of Secondary Sexual Development
• Hypogonadotropic Hypergonadism
• Affected Individuals Are Highly Prone to Burn Related Injuries
• All Other Sensory Modalities Are Intact
• Polyploid Sperm Heads
• Multi-Tailed Spermatozoa
• Irregularly Shaped Sperm Heads
• Large Spermatozoa
• Initial Cases Reclassified as Having Schwartz Jampel Syndrome
• Large Ossification Centers
• Absent Ossification of Capital Femoral Epiphysis
• No Coronal Clefts
• Normal Ribs
• Lateral Curving of Inferior Scapular Angle
• Adult Form Onset Has after 20 Years
• Juvenile Form Has Onset between 4 and 19 Years
• Late Infantile Form Has Onset between 19 Months and 4 Years
• Infantile Form Usually Leads to Death by Age 2 Years
• Infantile Form Accounts for 90% of Cases
• Infantile Form: Onset within First 6 Months of Life