Rare Disease Intelligence

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss is an inherited disorder primarily affecting...

Macrothrombocytopenia, isolated is a condition that affects blood platelets, which are essential for proper blood clotting. Although specific details...

Macrothrombocytopenia, isolated, 1, autosomal dominant is a blood disorder characterized by the presence of unusually large platelets, which is known...

Macrothrombocytopenia, isolated, 2, autosomal dominant is a condition primarily affecting blood platelets, where platelets may be larger than normal a...

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome is a multi-system condition that affects neurodevelopme...

Macrotrabecular hepatoblastoma is a distinct subtype of liver tumor that primarily affects young children and is characterized by its unique histologi...

Macular amyloidosis is a chronic skin condition characterized by the deposition of amyloid in the upper dermis, which leads to pruritic, hyperkeratoti...

Macular coloboma-cleft palate-hallux valgus syndrome is a condition primarily affecting the eyes, facial structures, and the skeletal system. It is ch...

Macular degeneration, X-linked atrophic is a condition affecting the central part of the retina, which is crucial for detailed vision. This condition...

Macular degeneration, early-onset is an inherited condition that affects the retina, specifically in the region of the macula responsible for central...

Macular dystrophy, fenestrated sheen type is an ocular condition that primarily affects the central region of the retina, leading to vision difficulti...

Macular dystrophy, retinal is an ocular condition that primarily affects the central portion of the retina, the macula, which is critical for detailed...

Macular dystrophy, retinal, 3 is an ocular condition primarily affecting the retina, most the macular region responsible for central vision. It is inh...