Disease Directory

IFAP syndrome is a rare condition recognized by several names including ichthyosis follicularis-alopecia-photophobia syndrome and ichthyosis follicula...

IFAP syndrome 1, with or without BRESHECK syndrome is an X-linked condition that affects many parts of the body. It is best known for a classic trio o...

IFAP syndrome 2 is a rare inherited condition that has been recognized for its distinct pattern of skin and hair abnormalities, along with sensitivity...

IFIH1-related type 1 interferonopathy refers to a group of conditions caused by variations in the IFIH1 gene. This gene change affects the body’s type...

IFT140-related recessive ciliopathy is a rare genetic condition caused by changes in both copies of the IFT140 gene. This gene plays an important role...

IKZF2-related combined immunodeficiency is a condition in which the immune system does not work as it should. This immune problem arises from a variat...

IL10-related early-onset inflammatory bowel disease is a rare condition that affects the immune system. It is marked by severe inflammation of the bow...

IL21-related infantile inflammatory bowel disease is a rare condition that appears in infancy and is associated with changes in the IL21 gene. While a...

IMAGe syndrome is a rare condition that is characterized by intrauterine growth retardation, short limbs due to metaphyseal dysplasia, underdeveloped...

IMPDH1-related retinopathy is a type of eye condition that affects the retina, the light-sensitive tissue at the back of the eye. This condition is ca...

IMPG1-related dominant retinopathy is a type of eye disease caused by an autosomal dominant variant in the IMPG1 gene. This condition affects the reti...

IMPG1-related recessive retinopathy is a type of retinal disease that develops because of specific changes in the IMPG1 gene. These changes follow an...

IMPG2-related dominant retinopathy is a condition that affects the retina in people who have a heterozygous variant in the IMPG2 gene. The retina is a...

IMPG2-related recessive retinopathy is a type of retinopathy caused by bi-allelic variants in the IMPG2 gene. This condition affects the retina, the l...

INTU-related skeletal ciliopathy is a rare genetic condition caused by a mutation in the INTU gene. It is a type of skeletal ciliopathy that affects b...

IRF4-related combined immunodeficiency is a rare condition that affects the immune system. It is classified as a combined immunodeficiency, which mean...

IRIDA syndrome is a rare condition that affects the way the body processes iron. It is characterized by iron deficiency anemia, specifically a hypochr...

IRVAN syndrome, also known as idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome, is a rare condition that affects the eyes. It is descri...

ITM2B amyloidosis is a rare condition that is also known by several other names including ITM2B-related amyloidosis, ITM2B-related cerebral amyloid an...

ITPKB deficiency is a form of non-severe combined immunodeficiency that is caused by a variation in the ITPKB gene. This condition affects the immune...