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21601 to 21700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Epithelial Thickening
White, Spongy Plaques of Nasal Mucosa
White Spongy Plaques on the Rectal Mucosa
White Spongy Plaques on the Esophageal Mucosa
White Spongy Plaques on the Vaginal Mucosa
Diagnosis in the Second Decade of Life
Caused by Mutation in the Kizuna Centrosomal Protein Gene
Foveal Thinning
Atrophic Changes of Central Macula
Pigmentary Changes in the Peripheral Retina
Mutation in the NR2F2 Gene
Mutation in the XYLT1 Gene
Doughy or Puffy Skin
Toe Deformities
Toe Clinodactyly
Broad Feet
Extra Ossification
Monkey-Wrench Appearance of the Femoral Neck
Multiple Dislocations of Large Joints
Pre- and Postnatal Growth Retardation
Mutation in the Zona Pellucida Glycoprotein 1 Gene
Absence of Oocyte Zona Pellucida
Mutation in the Beta Tubulin Gene
Microcephaly (2.5-4 SD)
Band Heterotopia
White Matter Streaks
Waxing and Waning Cardiomyopathy
Frequent Neonatal Sudden Death
Arrhythmias Detected Prenatally
Mutation in the 155 kD Nucleoporin Gene
Ventricular Tachyarrhythmias
Inconsistent R-R Intervals
Fast Atrial Rate
Variable Age at Onset - 2 to 48 Years
Mutation in the STUB1 Gene
Mild Distal Sensory Axonal Neuropathy
Lack of Secondary Sexual Characteristics
Mutation in the IL21 Gene
Globular Thalamus
Globular Basal Ganglia
Highly Variable Dysmorphic Features
Prominent High Nasal Root
Chewing Abnormalities
Mutation in the Glutaminyl tRNA Synthetase Gene
Intractable Severe Seizures
Nodular Skin Lesions
Impaired Signaling through the T Cell Receptor
CD4+ T Cell Lymphopenia
Relatively Benign Course after Acute Episodes in Childhood
Urine 3-OH-Isovaleric Acid Increased and Ketonuria
Urine 3-Methylcrotonylglycine Increased
Urine Methylcitrate Increased
Urine Propionyl Glycine Increased
Urine 3-OH-Propionic Acid Increased
Urine 3-OH-Butyric Acid Increased
Urine Tricarboxylic Acid Intermediates Increased
Mild Delayed Psychomotor Development
Acute Episodic Encephalopathy
Some Patients Do Not Develop Stroke
Onset of Achalasia in Infancy or Early Childhood
Mutation in the Soluble Guanylate Cyclase 1 Alpha 3 Gene
Stenosis of the Intracranial Arteries
Ischemic Stroke
Only Apparent in Patients Taking Eculizumab
Poor Response to the C5 Inhibitor Eculizumab
Mutation in the Complement Component 5 Gene
Onset of Symptoms in the Fourth to Sixth Decade of Life
Peripheral Embolism
Ventriculo-Atrial Regurgitation
Myocardial Dysfunction
No Mitral A Wave on Echocardiogram
Absence of Atrial Wall Movement on Fluoroscopy
Lack of Atrial Excitability
Progressive Decrease in Atrial Voltage
Progressive Biatrial Enlargement
Onset of Seizures between 8 and 11 Months of Age
Focal Discharge
Some Patients Have Only Plantar Surface Involvement
Mutation in the Keratin 6C Gene
Splinter Hemorrhages of Nails
Mild Hypertrophic Nail Changes
Non-Epidermolytic Orthohyperkeratosis
Clavus Formation
Hyperhidrosis of Plantar Surface
Plantar Blistering
Mild Leukokeratosis of Buccal Bite Line
Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
Large, Fleshy Earlobes
Defective Ossification of the Vertebral Bodies
Persistent Notochordal Canal
Vertical Clefting of the Vertebral Bodies
Mutation in the Low Affinity Receptor IIIa for the Fc Fragment of IgG
Defective NK Function in Spontaneous Cellular Cytotoxicity
Numbers of NK Cells Decreased or Normal
Lymphoproliferation
Recurrent Infections - Particularly Herpes Viral
Restrictive Syndrome
Nail Dysplasia
Diffuse Collagen Sclerosis
Elastic Globules in Papillary Dermis