Disease Directory

VACTERL with hydrocephalus is a rare congenital condition that involves multiple body systems. The term VACTERL is an acronym that stands for Vertebra...

VACTERL/VATER association is a condition where a person is born with several birth defects. Typically, at least three of the following features are pr...

VEXAS syndrome is an adult-onset inflammatory condition that affects only males. It is caused by somatic mutations in the UBA1 gene rather than inheri...

VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP). This secretion leads to a p...

Venezuelan equine encephalitis is a condition caused by infection with the Venezuelan equine encephalitis virus. People with this condition may experi...

Venezuelan hemorrhagic fever is a viral disease caused by the Guanarito virus. People with this condition may experience a high fever, headache, joint...

Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies syndrome that affects many parts of the body. It is characterized by several sk...

Information about the overall disease is currently limited for this condition.

Vici syndrome is a very rare and severe congenital multisystem disorder that affects many parts of the body. It is mainly known for causing developmen...

Vogt-Koyanagi-Harada disease is a chronic inflammatory condition that affects both eyes. It involves a type of inflammation called panuveitis, which m...

Volkmann contracture is a condition where the forearm muscles become permanently shortened due to a lack of blood flow, usually after a trauma. This r...

Von Willebrand disease, X-linked form is a rare condition that is recognized by its association with a pattern of inheritance linked to the X chromoso...

WAGR syndrome is a complex congenital condition that affects multiple organ systems, including the eyes, kidneys, and the genitourinary tract. It is c...

WDPCP-related ciliopathy is a rare condition caused by changes (variants) in the WDPCP gene. Variants in this gene can lead to problems with cilia, wh...

WHIM syndrome 1 is a rare, congenital, autosomal dominant immune deficiency. It is characterized by an abnormal retention of mature neutrophils in the...

WT limb-blood syndrome is a rare condition that affects both the blood and the limbs. People with this condition often develop blood abnormalities suc...

Waardenburg syndrome is a condition that affects the hearing and the pigmentation of the eyes, hair, and skin. It is caused by variations in the devel...

Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome characterized by congenital deafness and pigmentation differences in the eyes,...

Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome. It is mainly characterized by different levels of hearing...

Waardenburg syndrome type 2A is a condition caused by mutations in the MITF gene. It is a genetic disorder that affects pigmentation, although detaile...