Disease Directory

Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis characterized by an abnormal proliferation of mast cells, typically wit...

Indomethacin embryofetopathy describes a collection of fetal and neonatal manifestations that may develop when a mother takes indomethacin during preg...

Infant botulism is a condition that occurs in infants between 28 days and one year of age. It is characterized by a paralytic illness resulting from t...

Infant epilepsy with migrant focal crisis is an ultra-rare neurological disorder that presents in early infancy with a unique pattern of seizures and...

Infant gynecomastia is a transient condition characterized by bilateral swelling of the breast tissue in newborns. It results from the natural influen...

Infantile Krabbe disease, also known as classic or early-onset Krabbe disease, is a severe neurological disorder characterized by the degeneration of...

Infantile apnea is a condition characterized by interruptions in the normal breathing pattern of infants and young children. It may occur due to neuro...

Infantile bilateral striatal necrosis is a condition characterized by symmetric spongy degeneration in deep brain structures such as the caudate nucle...

Infantile cerebellar-retinal degeneration is a congenital condition that primarily affects the brain and eyes. The condition is caused by mutations in...

Infantile convulsions and choreoathetosis is a neurological disorder that presents with seizures during the first year of life and abnormal involuntar...

Infantile digital fibromatosis is a benign condition characterized by the development of nodular lesions on the fingers or toes, most often noticed in...

Infantile epilepsy syndrome is an epilepsy condition that occurs between 28 days and one year of age, primarily impacting the developing brain. It is...

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder that primarily affects the h...