Rare Disease Intelligence

Microphthalmia, isolated, with coloboma 7 is an ocular condition characterized by distinct structural eye abnormalities, primarily involving colobomas...

Microphthalmia, isolated, with coloboma 9 is a congenital ocular condition characterized by abnormally small eyes and structural defects such as iris...

Microphthalmia, syndromic 1 is a congenital condition that primarily affects eye development and neurodevelopment. It is caused by alterations in the...

Microphthalmia, syndromic 2 is a complex condition that primarily affects eye development, as well as dental, cardiac, and facial features. It is caus...

Microscopic polyangiitis is an inflammatory, necrotizing, systemic vasculitis that primarily affects small blood vessels in multiple organs. It is cha...

Microsporidiosis is a fungal infection caused by Microsporidia that primarily affects individuals with weakened immune systems. The condition is chara...

Microtia is a congenital malformation of the external ear. It is seen more frequently in males and can occur as a random event or be inherited. In man...

Microtriplication 11q24.1 is an extremely rare chromosomal disorder resulting from a partial triplication of the long arm of chromosome 11, which lead...

Microvillus inclusion disease is a very rare malabsorption syndrome that primarily presents in the neonatal period with severe, persistent secretory d...