Rare Disease Intelligence

Isolated neonatal sclerosing cholangitis is a rare genetic disorder affecting the biliary tract that presents in the neonatal period. It is characteri...

Isolated optic nerve hypoplasia is a developmental condition affecting the optic nerve, leading to visual impairment and reduced vision. Variants in t...

Isolated optic neuritis is a rare inflammatory condition affecting the optic nerve that presents with episodes of vision loss and eye pain. It occurs...

Isolated optic neuritis with anti-MOG antibodies is an inflammatory condition affecting the optic nerve, which is associated with the presence of anti...

Isolated optic neuritis without anti-MOG antibodies is a condition affecting the optic nerve that causes inflammation and visual disturbances. It is c...

Isolated primary pigmented nodular adrenocortical disease is a condition affecting the adrenal glands, characterized by the development of pigmented n...

Isolated pulmonary capillaritis is a type of small vessel vasculitis that is confined to the lungs and can lead to diffuse alveolar hemorrhage. The co...

Isolated sedoheptulokinase deficiency is a very rare condition that typically presents at birth. It is associated with pathogenic variants in the SHPK...

Isolated spina bifida is a type of spina bifida that occurs as a solitary defect affecting the development of the spinal column, without being part of...