Rare Disease Intelligence

Lysosomal storage disease is a metabolic condition that results from mutations affecting proteins critical for the proper function of lysosomes, the c...

Lysosomal storage disease with skeletal involvement is a condition that primarily affects the bones and may involve additional organ systems due to im...

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is a rare multiple congenital anomaly syndrome marked by an unu...

Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare congenital condition characterized by postnatal macrocephaly, progressive spastic parap...

Macrocystic lymphatic malformation is a vascular anomaly characterized by the presence of thin-walled cavernous lymphatic spaces. It most commonly pre...

Macroglobulinemia, Waldenstrom, 1 is a condition that affects the blood and lymphatic system and is associated with abnormal immunoglobulin production...

Waldenstrom macroglobulinemia, type 2 (WM2), is a rare hematological condition characterized by the presence of abnormal IgM monoclonal antibodies. Cu...

Macrophage activation syndrome is a serious complication of rheumatic diseases characterized by an overwhelming immune response with excessive activat...

Macrophagic myofasciitis is a condition primarily identified in childhood and has also been referred to as MMF. Current clinical data does not delinea...