Rare Disease Intelligence

Linear scleroderma is a form of localized scleroderma characterized by a long, indurated strip of skin that typically occurs unilaterally on an arm, l...

Linear skin defects with multiple congenital anomalies is a genetic condition primarily affecting the eyes and skin. It is characterized by microphtha...

Linear skin defects with multiple congenital anomalies 2 is an X‐linked condition that primarily affects females, with affected individuals exhibiting...

Linear skin defects with multiple congenital anomalies 3 is a multi-system condition characterized primarily by asymmetric, linear skin defects and a...

Lip and oral cavity squamous cell carcinoma is a malignancy that develops from the squamous cells lining the lip and oral cavity, most commonly affect...

Lipid-cell variant infiltrating bladder urothelial carcinoma is a distinct form of bladder cancer noted for its aggressive infiltration and unique cel...

Lipoblastoma is a benign soft tissue tumor that occurs most often in the extremities of young children, particularly affecting boys. It is characteriz...

Lipodermatosclerosis is a skin condition affecting the lower legs and is classified as a form of panniculitis, which involves inflammation of the fat...

Lipodystrophy due to peptidic growth factors deficiency is a very rare condition, affecting fewer than 1 in 1,000,000 people. It is characterized by a...

Lipodystrophy, congenital generalized, type 5 is a metabolic condition characterized by a near-total lack of adipose tissue and associated metabolic d...

Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare genetic condition characterized by a generalized lack of body fat present...

Lipoic acid synthetase deficiency is a rare mitochondrial disorder that impairs energy production in cells and predominantly presents in early life. I...

Lipoid proteinosis is a rare genodermatosis that primarily affects the skin and mucous membranes, with early signs including a hoarse voice that typic...