Immunotactoid or fibrillary glomerulopathy describes a group of very rare kidney disorders characterized by abnormal deposits within the glomeruli. Re...

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...

Imperforate anus is a congenital condition characterized by the absence of a normal anal opening, typically identified shortly after birth. It represe...

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...

Inborn aminoacylase deficiency is an inherited metabolic disorder characterized by a disruption in aminoacylase activity. This condition is linked to...

Inborn carbohydrate metabolic disorder is an inherited metabolic condition that arises from a disruption in the process of carbohydrate metabolism. Re...

The inborn disorder of amino acid and other organic acid metabolism is a metabolic condition that can affect multiple organ systems. Although the prec...

Inborn disorder of amino acid metabolism is an inherited condition that disrupts the normal processing of amino acids in the body. It encompasses a ra...

Inborn disorder of amino acid transport is a condition that interferes with the body’s ability to absorb and transport amino acids. While specific cli...

Inborn disorder of aspartate family metabolism is an inherited metabolic condition characterized by a disruption in the aspartate family amino acid me...

Inborn disorder of bile acid synthesis is a group of metabolic conditions that arise from enzyme deficiencies affecting the production of bile acids....

Inborn disorder of bilirubin metabolism is an inherited condition that affects the body’s ability to process bilirubin, a substance produced during th...

Inborn disorder of biogenic amine metabolism and transport is a condition that affects the body’s handling of biogenic amines, which serve as crucial...

Inborn disorder of branched-chain amino acid metabolism is an inherited metabolic condition that stems from disruptions in the pathways processing bra...

Inborn disorder of cobalamin metabolism and transport is an inherited metabolic disease that affects how vitamin B12, or cobalamin, is absorbed in the...