Rare Disease Intelligence

Limb-girdle muscular dystrophy (LGMD) is a diverse group of muscular dystrophies primarily affecting proximal muscle strength, particularly in the pel...

Limb-girdle muscular dystrophy due to POMK deficiency is a genetic neuromuscular disorder that primarily affects muscle strength in the hip and should...

Limbal stem cell deficiency (LSCD) is characterized by a lack of stem cells in the limbus, which can lead to significant ocular surface issues. Althou...

Limbic encephalitis is a group of autoimmune conditions marked by inflammation of the limbic system and other areas of the brain. It is most noted for...

Limbic encephalitis with DPP6 antibodies is an immune-mediated condition that primarily affects the limbic system, a region of the brain that regulate...

Limbic encephalitis with LGI1 antibodies is a neuroimmunological condition that primarily affects the limbic system in the brain. It is characterized...

Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder that primarily affects the brain’s limbic system, leading to cognitiv...

Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis that is primarily characterized by skin fibrosis limited to the hands, face, f...

Limited dorsal myeloschisis is a rare dysraphic abnormality characterized by an abnormal, persistent connection between the neural tissue of the dorsa...

Limited systemic sclerosis is a form of systemic sclerosis in which internal organs are affected without the characteristic skin thickening seen in ot...

Linear IgA Dermatosis is an autoimmune condition that primarily affects the skin, manifesting as subepidermal blisters with a linear deposition of aut...

Linear and whorled nevoid hypermelanosis is a rare skin condition characterized by swirling streaks of darker skin that follow the natural lines of Bl...

Linear nevus sebaceous syndrome (LNSS) is a complex condition that primarily affects the skin and central nervous system, most presenting as a large s...