Rare Disease Intelligence

Inherited thrombophilia is an inherited hypercoagulable disorder that predisposes affected individuals to an increased risk of blood clots. The condit...

Inherited thyroid metabolism disease is an inherited metabolic condition that arises from disruption in the thyroid hormone metabolic process. Althoug...

Inherited torticollis is a congenital benign lesion that affects the distal portion of the sternocleidomastoid muscle in infants. It is characterized...

Inherited vitreoretinopathy is a condition that primarily affects the retina and can lead to vision disturbances. The precise genetic basis is not cur...

Insulin autoimmune syndrome is a very rare condition that leads to episodes of low blood sugar, or hypoglycemia, caused by the body’s immune system mi...

Insulin-resistance syndrome type A is an extreme form of insulin resistance characterized by high levels of insulin, distinctive skin changes known as...

Integumentary system disorder is a condition that primarily affects the skin and related structures. This disorder is associated with genetic variatio...

Intellectual developmental disorder 62 is a neurodevelopmental condition primarily characterized by challenges in cognitive function and developmental...

Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is a condition that impacts both cognitive development and visual function. It is...

Intellectual developmental disorder with autism and macrocephaly is a neurodevelopmental condition that primarily affects cognitive and behavioral fun...

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies is a severe, multisystem condition that primarily affe...