Rare Disease Intelligence

Menstrual cycle-dependent periodic fever is a condition characterized by periodic episodes of fever that are linked to the menstrual cycle. Although i...

Meralgia paraesthetica, familial is an inherited condition that primarily affects the sensory nerves of the outer thigh, leading to uncomfortable sens...

Meralgia paresthetica is a condition involving the peripheral nervous system that most commonly presents with tingling, numbness, and burning pain in...

Mesangial proliferative glomerulonephritis is a kidney condition characterized by an increased number of mesangial cells and damage to the glomeruli,...

Mesenchymal chondrosarcoma is a malignant tumor that arises from bone or soft tissue and shows a distinct biphasic pattern with areas of small round c...

Mesenchymal glioblastoma is a molecular subtype of glioblastoma characterized by the presence of NF1 mutations. Currently, no specific genes have been...

Mesenchymal tumor of small intestine is a type of tumor that arises from the connective tissue cells of the small bowel. While detailed prevalence dat...

Mesoaxial synostotic syndactyly with phalangeal reduction is a distinct limb malformation primarily affecting the hands and feet. The condition is cha...

Mesomelia-synostoses syndrome is a syndromal osteochondrodysplasia characterized by progressive bowing of the forearms and legs, abnormal fusion of bo...

Mesomelic dysplasia, Kantaputra type is a skeletal condition characterized by a symmetric shortening of the middle segments of the limbs along with sh...