Rare Disease Intelligence

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is an autosomal dominant condition caused by pathogenic variants in the SMAD4 gene....

Juvenile primary lateral sclerosis is a very rare motor neuron disorder characterized by progressive upper motor neuron dysfunction that leads to diff...

Juvenile sialidosis type 2, also known as dysmorphic sialidosis or the juvenile form, is a condition that remains incompletely characterized, with its...

Juvenile temporal arteritis is a rare form of vasculitis that specifically targets the temporal arteries located at the sides of the skull. It is most...

Juvenile-onset Parkinson disease is a condition that primarily affects motor function in younger individuals. Although detailed prevalence information...

Juvenile-onset Steinert myotonic dystrophy is a neuromuscular condition that primarily affects muscle function and may involve multiple body systems....

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome is a highly uncommon condition that affects multiple systems, parti...

Juxtacortical osteosarcoma is a low grade malignant bone-forming mesenchymal neoplasm that arises from the surface of the bone, most commonly affectin...

Kaolin pneumoconiosis is a lung condition caused by the inhalation of kaolin dust, which can lead to inflammation and scarring of the lung tissue. It...

Kaposiform hemangioendothelioma is a very rare and aggressive vascular tumor that typically presents in the neonatal period or during infancy. It appe...

Kaposiform lymphangiomatosis (KLA) is a rare and complex condition affecting the lymphatic system. It is defined as a generalized lymphatic anomaly ch...

Karyomegalic interstitial nephritis is a kidney disorder characterized by inflammation affecting the interstitial tissue of the kidneys. It arises fro...

Keratinopathic ichthyosis is a condition that primarily affects the skin, leading to abnormal scaling and texture. Research has identified that change...

Keratitis fugax hereditaria is a genetic condition that primarily affects the cornea of the eye, leading to sudden episodes of inflammation and visual...

Keratoconus is a degenerative, structural disorder of the eye in which the clear front surface (cornea) gradually thins and bulges into a cone shape....

Keratoconus 1 is a genetic eye condition in which the normally clear cornea gradually becomes thin and develops a conical shape. This form of keratoco...

Keratoconus 2 is an ocular condition affecting the cornea, the clear, front surface of the eye, and can lead to changes in vision. Although detailed c...