Disease Directory

Aloi Tomasini Isaia syndrome is a very rare condition that has been reported in only one patient or family. It is characterized by a unilateral linear...

Alport syndrome is a renal condition that primarily affects the glomeruli of the kidneys, often leading to blood in the urine and eventual kidney fail...

Alport syndrome 3b, autosomal recessive is a rare condition that involves genetic changes affecting kidney function and other organs. This condition i...

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a multi-system condition that primarily affects the kidneys, ear...

Alsahan-Harris syndrome is a rare condition identified in the OMIM database (OMIM:621307). Currently, there is limited publicly available information...

Alstrom syndrome is a multisystem disorder that affects multiple organs including the eyes, ears, heart, liver, kidneys, and metabolic systems. It is...

Alzahrani-Kuwahara syndrome is a rare genetic condition associated with changes in the SMG8 gene. Information about this condition is limited, and man...

Alzheimer disease 10 is a rare form of Alzheimer disease that is associated with a variation in the region 7q36. It is one of several familial types o...

Alzheimer disease 11 is a form of Alzheimer disease associated with a variation in the region 9p22.1. It is also known by several other names includin...

Alzheimer disease 12 is a form of Alzheimer’s disease that has been linked to a genetic variation found in the region 8p12-q22. This variation involve...

Alzheimer disease 13 is a rare form of Alzheimer disease that is associated with a variation in the region 1q21. This condition has been noted to be l...

Alzheimer disease 14, also known as AD14 or Alzheimer's disease type 14, is a rare form of Alzheimer's disease. It is characterized by a genetic varia...

Alzheimer disease 17 is a type of Alzheimer’s disease that has been linked with mutations in the TREM2 gene. This condition is considered part of the...

Alzheimer disease 18 is a form of Alzheimer disease where the condition is caused by a mutation in the ADAM10 gene. This mutation affects the way cert...

Alzheimer disease 19 is a form of Alzheimer disease that is caused by a mutation in the PLD3 gene. This condition falls under the broader category of...

Alzheimer disease 2 is a form of Alzheimer’s disease that is linked to a specific genetic factor: the apolipoprotein E E4 allele. This condition is of...

Alzheimer disease 3 is an early-onset form of Alzheimer’s disease, meaning that symptoms start before the age of 65. It is a rare condition that is li...

Alzheimer disease 4 is a form of Alzheimer’s disease that starts early, typically before the age of 65. It is known as a familial form of Alzheimer’s...

Alzheimer disease 5 is a rare, familial type of Alzheimer disease. It is known by several names including AD5, Alzheimer disease type 5, and Alzheimer...

Alzheimer disease 6 (AD6) is a rare form of Alzheimer disease that is linked to a variation in a specific region of DNA known as 10q24. This condition...