Rare Disease Intelligence

Jejunal neuroendocrine tumor G1, also known as carcinoid tumor of the jejunum, is a well differentiated, low grade neuroendocrine tumor that arises fr...

Jejunal neuroendocrine tumor, well differentiated, low or intermediate grade is a type of tumor that originates in the jejunum and exhibits neuroendoc...

Joint laxity, familial is a form of connective tissue disorder that falls within the spectrum of Ehlers-Danlos syndromes. It is characterized by gener...

Jugular foramen meningioma is a type of tumor that arises in the meninges at the level of the jugular foramen, a key opening at the base of the skull....

Junctional epidermolysis bullosa is a severe skin disorder primarily affecting the skin and mucosal membranes, where the layers of the skin separate e...

Junctional epidermolysis bullosa Herlitz type is a severe subtype of junctional epidermolysis bullosa marked by widespread blistering and erosions tha...

Junctional epidermolysis bullosa inversa, also known as EBJ-I or inverse JEB, is a rare and severe subtype of junctional epidermolysis bullosa that pr...

Junctional epidermolysis bullosa with pyloric atresia is a severe disorder that primarily affects the skin and gastrointestinal system, characterized...

Junctional epidermolysis bullosa, non-Herlitz type is a subtype of junctional epidermolysis bullosa that primarily affects the skin and mucous membran...

Juvenile Huntington disease (JHD) is a rare neurodegenerative disorder characterized by the onset of symptoms before the age of 20. Although no specif...

Juvenile Paget disease is a very rare bone disorder characterized by an abnormal increase in bone turnover that results in skeletal deformities, growt...

Juvenile absence epilepsy is a form of genetic epilepsy that generally presents around puberty and primarily affects the central nervous system. It is...

Juvenile arthritis due to defect in LACC1 is a rare form of juvenile arthritis that appears in children. The condition is linked to changes in the LAC...