Rare Disease Intelligence

Maternal uniparental disomy of chromosome 4 is a genetic event in which both copies of chromosome 4 are inherited from the mother. In itself, this unu...

Maternal uniparental disomy of chromosome 6 is a genetic condition where both copies of chromosome 6 are inherited from the mother. This condition is...

Maternal uniparental disomy of chromosome 9 is a chromosomal anomaly where both copies of chromosome 9 are inherited from the mother. In most instance...

Maternal uniparental disomy of chromosome X is a genetic condition that results from inheriting both copies of the X chromosome exclusively from the m...

Maternally-inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized by symptoms such as encephalopathy, lactic acidosis, seizures, c...

Maternally-inherited cardiomyopathy and hearing loss is a mitochondrial disorder characterized by a combination of progressive sensorineural hearing l...

Maternally-inherited diabetes and deafness is a mitochondrial disorder most characterized by the coexistence of diabetes and sensorineural hearing los...

Maternally-inherited mitochondrial dystonia is a rare neurological disorder that affects movement, specifically causing progressive dystonia in pediat...

Mature T-cell and NK-cell non-Hodgkin lymphoma (NHL) encompasses a group of aggressive hematopoietic neoplasms, primarily affecting T-cells and natura...

Mature gastric teratoma is a benign tumor arising from the stomach, characterized by the presence of well-differentiated tissues derived from various...

Mature ovarian teratoma is a benign ovarian tumor composed entirely of well-differentiated, adult-type tissues and is usually cystic in nature. It is...

Mature pericardial teratoma is a benign tumor that arises from the pericardium, the sac-like structure surrounding the heart. This condition is genera...

Mature teratoma is a tumor composed entirely of well differentiated, adult-type tissues that may appear as a cystic mass. It is typically identified d...

Maturity-onset diabetes of the young (MODY), also known as Mason-type diabetes, is a rare form of familial diabetes characterized by an onset between...

Maturity-onset diabetes of the young type 1 is a form of monogenic diabetes that primarily affects the regulation of blood sugar levels. It is caused...