47001 to 47100 most common queries

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

• Mutation in the Fibrillin 1 Gene
• Large Birth Size
• Selective Tooth Agenesis
• Caused by Mutation in the Adenosine Kinase Gene (ADK)
• Birth Weight Normal to Increased
• Onset of Abnormal Eye Movements in Early Childhood
• Prenatal or Postnatal Weight Increased
• Mutation in the Homolog of the Mouse Noggin Gene
• Defective Neutrophil Adhesion to Endothelial Cells
• Fibrous Intimal Proliferation of Septal Veins and Preseptal Venules
• Airway Abnormalities
• Renal Calcium Excretion Decreased
• Brachymetacarpy (Rays 3-5)
• Warmth and Tenderness of the Heel
• Aplastic or Hypoplasia of First Metatarsal
• Bilateral Renal Hamartomas
• Mutation in the NPHP3 Gene
• Inability to Express Self
• Well-Defined Eyebrows
• Postnatal Deceleration of Length
• Cardiac Defects
• Prenatal or Postnatal Length Increased
• Calcifications of the Cardiac Valves
• Alopecia Usually Occurs around Puberty
• Distal Interphalangeal Joint Synostoses
• Abnormal Hair Patterning
• Biopsy Shows Pulmonary Venoocclusive Disease
• Mild Vertebral Anomalies
• Mutation in the MBD5 Gene
• Aplastic or Hypoplastic First Metacarpal
• Urine Phosphorus Decreased
• Variable Rate of Progression
• Mutation in the PEX2 Gene
• Pseudomuscular Build
• Urine Adenosine Increased
• Phenotypically Similar Autosomal Dominant Form:
• Stiff Wrist
• Birth Length Normal to Increased
• Calcific Aortic Valve Stenosis
• Proximal Interphalangeal Joint Synostoses
• Proximally Short Radius
• Variable Age at Onset - Infancy to Adulthood
• Limited Range of Joints Motion
• Colors Indistinguishable
• Lymph Node Enlargement Seen on CT
• Exposure to Metal Fumes
• Profound Deafness by 6th Decade
• Hernia
• Episodic Bleeding
• Non-Febrile Seizures Later
• Second Metacarpal Notched Proximally on Radial Side
• S-Adenosylhomocysteine Increased
• Absent Upper Vagina
• Bone Marrow Shows Gaucher Cells
• Broad Iliac Wings
• Mutation in the Homeobox D13 Gene
• Alopecia Beginning in the Occiput
• Tongue Nodules
• Soft, Translucent Spoon Nails
• Septal Lines Seen on CT
• Short Umbilical Cord with Unusually Long Skin Coverage
• Hearing Loss Begins with Loss of High Frequencies
• Defective Bile Acid Metabolism
• Febrile Seizures in Infancy
• Dysostosis
• Persistence of Urogenital Sinus - Cloaca
• Increased Prevalence in Individuals of Turkish Descent
• Short, Stubby Phalanges
• Bulbous Deformity of Ischial and Pubic Bone
• β-Glucosidase Protein and Activity Decreased
• S Adenosylmethionine Increased
• 6 Metatarsals
• Simple Helix
• Thigh Pain
• DHEA Sulfotransferase below Limit of Detection
• Occult Alveolar Hemorrhage
• Patients Walk on Tips of Toes with Dorsal Foot Deviated Laterally
• Thyroxine May Be Decreased or Normal
• Contractures (Older Children and Adolescents)
• Peroxisome Deficiency
• Normal Adult Height
• Familial Enteropathy
• Mean Corpuscular Hemoglobin Increased
• Triangular Distal Phalanges
• Short, Stubby Metacarpals
• White Matter Degeneration
• Slightly Increased Female-to-Male Ratio (1.4-2:1)
• Lysosomal Storage Vacuoles in Trachea, Liver, Cartilage and Heart
• Difficulty Walking in Childhood
• Carbon Monoxide Diffusion Capacity Decreased
• Dehydroepiandrosterone at Upper Level of Normal Range
• Fibulo-Calcaneal Complex
• Hypopigmented Skin
• Variable Age of Onset of Parkinsonism
• Highly Variable Phenotype That Includes Several Subtypes
• Hypertonia
• Accumulation of Pipecolic Acid
• Thin, Sparse, Gray Hair
• Vasospasm
• Mutation in the Muscle Glycogen Phosphorylase Gene