24701 to 24800 most common queries

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

• Variable Rod and Cone Responses (ERG)
• Mutation in RP9 Gene Likely Not Pathogenic
• Mutation in the RP9 Gene
• Acantholytic Changes
• Iron Sequestered in Pulmonary Macrophages
• Crisis Precipitated by High Altitude Exposure
• Pulmonary Artery Pressure Increased
• Normal Pulmonary Vein Pressures
• Left Atrial Pressure Normal
• High-Altitude Acute Pulmonary Edema
• Thin Central Cornea
• Cup-to-Disc Ratio Increased
• Cupping of Optic Nerve Head
• Early Onset
• Caused by Duplication of 300 kb on 12q14
• Pseudouveitis due to Breakdown of Blood-Aqueous Barrier
• Iris Hypoperfusion due to Degenerated Stromal Vessels
• 'Moth Eaten' Pattern of Peripupillary Atrophy
• Melanin Dispersion in Iris
• Iris Rigidity
• Atypical Cornea Guttata
• Open Angle Glaucoma due to Pupillary and Ciliary Block
• Poor Mydriasis
• Regional and Ethnic Clustering
• Reduced Joint Mobility
• Mutation in the PPOX Gene
• Mechanically Fragile Skin
• Blisters on Sun-Exposed Areas
• Mutation in the HMBS Gene
• Duplicated Frenulum
• Subtle Midline Lip Defect
• Mutation in the DDX59 Gene
• Tetralogy of Fallot - Ventricular Septal Defect
• Fused Kidneys
• Dyspnea due to Mass Effect of Liver
• Caused by Mutation in the Transmembrane Mucin 1 Gene
• Mutation in the PKD1 Gene
• Cellular LMNB1 mRNA and Protein Increased
• Possibly White Matter Lesions in the Brain Stem
• Hypotrophic Brain Stem
• Central Hypoventilation
• Inspiratory Stridor in Early Life
• Melorheostosis Typically Affecting Diaphyses
• Jaw Osteomyelitis
• Face Deformity due to Enlarged Jaw Bones
• Mutation in the Anoctamin 5 Gene
• Onset of Optic Atrophy in Childhood
• Mild Extrapyramidal Signs
• Slow Saccades
• Expanded CAG Trinucleotide Repeats in the ATX1 Gene
• Mutation in the DNAJC5 Gene
• Speech Deterioration
• Onset of Hyperuricemia or Gout in Young Adulthood
• Urinary Excretion of Uromodulin Decreased
• Small Medullary Cysts
• Renal Biopsy Shows Chronic Interstitial Nephritis
• Non-Specific Myopathic Changes (No Dystrophy or Inflammation)
• Nemaline Bodies (Gomori Trichrome Staining of Muscle Biopsy)
• Stiffness
• Severity of Nail Involvement Worse on Radial than on Ulnar Side
• Abnormally Shaped Triangular or Absent Lunulae
• Myotonia - Muscle Relaxation after Contraction Delayed
• Muscle Hypertrophy May Occur
• Primarily Proximal Muscle Weakness
• Hand Posture Resembling Episodic Carpopedal Spasm
• Calf Muscle Enlargement
• Progressive Shoulder Girdle Muscle Weakness and Atrophy
• Muscle Weakness Symmetric Proximal Lower Limbs
• Mutation in the Solute Carrier Family 5 Member 7 Gene
• Difficulty with Hand Grip
• Flowing Hyperostosis of Bone Cortex
• Flexion Deformities Over Affected Bones
• Contractures over Affected Bones
• Erythematous Malar Rash
• Shuffling, Short-Stepped Gait
• Dense Islands of Connective Tissue
• Hyaline Changes
• Broad Thumbs in Valgus Position
• Bony Overgrowth of the Vertebral Bodies
• Bony Overgrowth of the Posterior Arches
• Posterior Neural Arches of Cervical Vertebrae Enlarged
• Thickening of Fascia of Forearm
• Thick Palmar Fascia
• All Cases due to De Novo Mutation
• Hyperkeratosis at Corners of Mouth
• Mutation in the Gene Encoding Desmoglein 1
• Yellowish Discoloration
• Whitish Discoloration
• Onycholysis Mild
• Ridging
• Mild Nail Dystrophy
• Separation of Keratinocytes in Spinous Layer
• Normal Keratin Intermediate Filaments
• Widening of Intercellular Spaces
• Papillomatosis Hypergranulosis
• Diffuse Hyperkeratosis
• Focal Hyperkeratosis
• Hyperkeratotic Plaques on Anterior Knee Area
• Hyperkeratotic Plaques on Anterolateral Ankle Area
• Hyperkeratosis of Pressure Sites of Palms and Soles