Disease Directory

Disorder of protein O-glycosylation is a condition characterized by a disruption in the normal process of attaching sugars to proteins, a modification...

Disorder of sex development-intellectual disability syndrome is an extremely rare condition that primarily affects individuals with a 46,XY karyotype....

Disorder of sialic acid metabolism is a condition that affects the body's normal metabolic processes involved in processing sialic acids, molecules es...

Disorder of sphingolipid biosynthesis is an inherited metabolic condition characterized by a disruption in the cellular process responsible for creati...

Disorder of thiamine metabolism and transport is a metabolic condition that affects the body’s ability to properly process and transport thiamine (vit...

Disorder of tyrosine metabolism is a condition that affects the body’s ability to process the amino acid tyrosine, which plays an important role in va...

Disorder of visual system is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

The disorder of vitamin and non-protein cofactor absorption and transport is a condition that affects the body’s ability to absorb and transport impor...

The disorder of zinc metabolism is associated with variants in three known genes: SLC39A4, PSTPIP1, and SLC30A9. However, the specific inheritance pat...

Disorders of pentose/polyol metabolism refer to a group of metabolic conditions that affect the body’s ability to process certain sugars and sugar alc...

Disorders of vitamin D metabolism are conditions that affect the way the body processes and utilizes vitamin D, an essential nutrient for bone health...

Dissecting cellulitis of the scalp is a rare, long-term skin condition that mainly affects the scalp. It is characterized by painful nodules, pustules...

Disseminated chorioretinitis is an ocular condition characterized by inflammation involving widespread areas of the retina and choroid. Because detail...

Disseminated eosinophilic collagen disease is a condition that appears to affect connective tissue, potentially involving abnormal collagen deposition...

Disseminated intravascular coagulation is a serious condition in which the body’s blood clotting mechanisms become overactive, leading to widespread c...

Disseminated intravascular coagulation in newborn is a clotting condition in which the normal balance between blood clot formation and breakdown is di...

Disseminated peritoneal leiomyomatosis is a rare, benign condition that affects the peritoneal cavity. It is characterized by the formation of multipl...

Disseminated sporotrichosis is a form of infection characterized by the spread of the disease beyond a localized site, potentially affecting multiple...

Disseminated superficial actinic porokeratosis (DSAP) is a skin condition characterized by the development of several small, annular plaques with a di...

Disseminated visceral giant cell angiitis is a form of necrotizing vasculitis that involves widespread inflammation of small blood vessels accompanied...