Disease Directory

Diaphanospondylodysostosis is a rare skeletal condition that primarily affects the development of the spine and associated structures. It is character...

Diaphragm disorder is a condition that involves abnormal function of the diaphragm, the muscle that plays a crucial role in breathing and separating t...

Diaphragma sellae meningioma is a type of tumor that arises from the meninges in the region of the diaphragma sellae, an area located near the pituita...

Diaphragmatic defect-limb deficiency-skull defect syndrome is a congenital condition marked by severe malformations affecting the diaphragm, lungs, li...

Diaphragmatic eventration is a condition characterized by an abnormal elevation of the hemidiaphragm. It can present as a congenital anomaly or may be...

Diaphragmatic hernia 1 is a congenital condition in which the diaphragm does not form properly, potentially allowing abdominal organs to enter the che...

Diaphragmatic hernia 2 is a congenital condition characterized by an abnormal formation of the diaphragm, which can allow abdominal organs to move int...

Diaphragmatic hernia 3 is a congenital condition in which a structural defect of the diaphragm is linked to a mutation in the ZFPM2 gene. This disorde...

Diaphragmatic hernia 4, with cardiovascular defects, is an inherited condition that primarily affects the development of the diaphragm and the cardiov...

Diaphragmatic hernia-short bowel-asplenia syndrome is a rare genetic condition characterized by multiple congenital anomalies, including a diaphragmat...

Diaphragmatic malformation is a developmental disorder affecting the diaphragm, the muscle that separates the chest from the abdominal cavity. This co...

Diaphragmitis is a condition affecting the diaphragm, a critical muscle involved in breathing. Detailed descriptions regarding the biological basis an...

Diaphyseal medullary stenosis-bone malignancy syndrome is a very rare condition that involves abnormal bone development and an increased risk of devel...

Diarrhea-vomiting due to trehalase deficiency is a condition characterized by gastrointestinal distress, diarrhea and vomiting, following the ingestio...

Diastematomyelia is a rare congenital abnormality in which the spinal cord is split by fibrous or bony tissue. It may appear as an isolated finding or...

Diastrophic dysplasia is a rare skeletal disorder characterized by short stature due to short extremities and joint malformations that frequently resu...

Diazoxide-resistant diffuse hyperinsulinism is a condition characterized by recurrent episodes of severe low blood sugar resulting from uncontrolled i...

Diazoxide-resistant focal hyperinsulinism is a form of hyperinsulinemic hypoglycemia characterized by episodes of profound low blood sugar due to a fo...

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency is a condition characterized by inappropriate insulin secretion that leads to episo...

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency is an endocrine condition characterized by inappropriate insulin secretion that leads...