Disease Directory

Turcot syndrome with polyposis is a rare inherited condition that falls under the group of familial adematous polyposis disorders. People with this co...

Turner syndrome is a chromosomal disorder characterized by the complete or partial absence of one X chromosome, leading to various clinical features....

Turner syndrome due to structural X chromosome anomalies is recognized as a rare form of Turner syndrome. In Turner syndrome, a person typically has a...

UROD-related inherited porphyria is a rare condition that affects the body's handling of porphyrins, which are chemicals important for energy producti...

UV-sensitive syndrome is a condition where even a small amount of sunlight can lead to a sunburn. People with this condition often experience changes...

UV-sensitive syndrome 1 is a rare genetic condition where people experience increased sensitivity to ultraviolet (UV) light. The condition is caused b...

UV-sensitive syndrome 2 is a rare genetic condition caused by mutations in the ERCC8 gene. People with this condition have an increased sensitivity to...

UV-sensitive syndrome 3 is a rare disorder where a mutation in the UVSSA gene causes an increased sensitivity to ultraviolet (UV) light. This conditio...

Uhl anomaly is a rare heart condition in which the muscle layer (myocardium) of the right ventricle is almost completely missing. This results in a th...

Ulbright-Hodes syndrome is a rare condition marked by several birth defects including abnormal kidney development (renal dysplasia), growth delays, an...

Ullrich congenital muscular dystrophy is a condition that primarily affects the muscles and connective tissue, leading to early-onset, generalized and...

Ullrich congenital muscular dystrophy 1A is a condition that affects the muscles and connective tissues, leading to difficulties with flexibility and...

Ullrich congenital muscular dystrophy 1B is a rare inherited condition that affects muscle strength and structure. It is considered one of the congeni...

Information about overview is currently limited for this condition. More detailed information regarding the clinical presentation and history of Ullri...

Ullrich congenital muscular dystrophy 2 is a rare genetic condition classified under the group of Ullrich congenital muscular dystrophies. It is cause...

Unverricht-Lundborg syndrome, also known as ULD or progressive myoclonic epilepsy type 1, is a rare neurological disorder. It is a type of progressive...

Upington disease is a rare condition that affects the hips and pelvis. It is characterized by changes in the hip bones that are similar to what is see...

Uruguay Faciocardiomusculoskeletal syndrome is a rare condition that has been noted in medical records and research. It is known by several names incl...

Usher syndrome is a rare condition that affects both hearing and vision. It is characterized by sensorineural deafness, which is usually present from...

Usher syndrome type 1 is characterized by congenital, bilateral, severe sensorineural hearing loss, vestibular system abnormalities, and adolescent-on...