Rare Disease Intelligence

Medullomyoblastoma with myogenic differentiation is a rare malignant embryonal neoplasm of the cerebellum that exhibits mixed features of a medullobla...

Megaconial type congenital muscular dystrophy is a neuromuscular condition affecting both muscle structure and neurodevelopment. It results from patho...

Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (MMIH syndrome) is a congenital disorder that primarily affects the function of the urinar...

Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 is a severe congenital condition that affects multiple organ systems including the gastroi...

Megalencephaly-capillary malformation-polymicrogyria syndrome is a complex condition that affects multiple body systems, particularly the brain and sk...

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 is a congenital disorder characterized by an abnormally large brain (megalencephaly...

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is a complex condition affecting brain development and several other organ...

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome is a very rare multisystem condition that affects growth and development, with notable involv...

Megaloblastic anemia is a blood disorder characterized by the presence of abnormally large red blood cell precursors, known as megaloblasts, in the bo...