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24701 to 24800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hypoplastic Kidneys
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