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

Juvenile polyposis of infancy is the most severe form of juvenile gastrointestinal polyposis, characterized by the presence of numerous hamartomatous...

Juvenile polyposis syndrome is a disorder characterized by the development of juvenile hamartomatous polyps throughout the gastrointestinal tract. It...

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...

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

Kabuki syndrome is a multiple congenital anomaly condition characterized by distinctive facial features, skeletal anomalies, mild to moderate intellec...

Kabuki syndrome 1 is a multisystem disorder that affects the craniofacial region, skeletal system, growth, ear, and genitourinary systems. It is cause...

Kabuki syndrome 2 is a congenital, multisystem condition that primarily affects growth, the nervous system, and the skeletal and ear structures. It is...

Kallmann syndrome is a developmental disorder characterized by congenital hypogonadotropic hypogonadism due to a deficiency of gonadotropin-releasing...

Kallmann syndrome-heart disease syndrome is a very rare condition characterized by a combination of hypogonadotropic hypogonadism, which results from...

Kandori fleck retina is a rare genetic retinal dystrophy that primarily affects the retina with distinctive irregular, sharply defined, yellowish-whit...

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...

Kaposi sarcoma, susceptibility to is a rare condition that suggests an increased tendency to develop Kaposi sarcoma, a type of cancer that primarily a...