Disease Directory

Distal monosomy 12q is a chromosomal condition resulting from the loss of a terminal segment on the long arm of chromosome 12. This multisystem disord...

Distal monosomy 13q is a chromosomal anomaly syndrome caused by a partial deletion of the long arm of chromosome 13. This condition affects multiple o...

Distal monosomy 14q is a chromosomal anomaly caused by a deletion at the distal end of the long arm of chromosome 14. This condition is associated wit...

Distal monosomy 17q is a very rare chromosomal disorder characterized by multiple congenital abnormalities affecting the craniofacial region, limbs, h...

Distal monosomy 19p13.3 is a chromosomal anomaly caused by a deletion at the far end of the short arm of chromosome 19. It is associated with a wide r...

Distal monosomy 1q is a chromosomal anomaly that results from a deletion at the very end of the long arm of chromosome 1. This condition is characteri...

Distal monosomy 4q is a chromosomal disorder characterized by the deletion of a segment from the distal (end) portion of the long arm of chromosome 4....

Distal monosomy 7p is a genetic condition caused by the deletion of a segment at the end of the short arm of chromosome 7. This chromosomal alteration...

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome caused by a partial deletion of the long arm of chromosome 7. The condition affects multip...

Distal monosomy 9p is a rare chromosomal anomaly syndrome caused by a partial deletion at the end of the short arm of chromosome 9. The condition affe...

Distal myopathy is a group of muscle disorders primarily affecting the distal muscles of the hands and feet, where weakness and muscle atrophy begin....

Distal myopathy with anterior tibial onset is a muscle disorder characterized by progressive weakness that often begins in the front portion of the lo...

Distal myopathy with posterior leg and anterior hand involvement is a neuromuscular condition characterized by progressive and symmetric muscle weakne...

Distal myopathy with vocal cord weakness is an adult-onset muscular condition that primarily affects the muscles of the hands and feet, leading to dif...

Distal myopathy, Tateyama type is a rare, genetic muscle disorder that primarily affects the small muscles of the hands and feet. It is characterized...

Welander distal myopathy is a form of muscle disease that primarily affects the distal muscles of the hands and feet. It is characterized by weakness...

Distal renal tubular acidosis is a kidney disorder that arises from an impaired ability of the distal tubules to secrete acid, leading to hyperchlorem...

Distal symphalangism is a very rare bone disorder primarily affecting the fingers and toes, where the distal interphalangeal joints become fused (anky...

Distal tetrasomy 15q is a chromosomal condition in which there are extra copies of the terminal segment of the long arm of chromosome 15. It is a mult...

Distal trisomy 10q is a chromosomal abnormality that involves an extra copy of the terminal segment of the long arm of chromosome 10. It is characteri...