Disease Directory

Xq25 microduplication syndrome is a rare genetic condition involving extra copies of a small segment on the X chromosome. This region may include the...

Xq27.3q28 duplication syndrome is a recently described condition that involves a duplication on the X chromosome. It is characterized by features such...

Y chromosome infertility due to DAZ1 deletion is a rare disease. Detailed information about this condition is currently limited in medical literature.

YAP1-MAMLD1 fusion-positive supratentorial ependymoma is a type of brain tumor that occurs in the supratentorial region, which is the upper part of th...

Yersinia pseudotuberculosis infectious disease is an infection caused by bacteria of the species Yersinia pseudotuberculosis. This condition is recogn...

Young syndrome is a rare condition that is characterized by the combination of obstructive azoospermia (a condition where there is no sperm in the eja...

Yunis-Varon syndrome is a rare condition present from birth that affects many parts of the body. People with this condition may have unique physical f...

ZTTK syndrome, also known by names such as Tokita-Kim syndrome, ZTTK multiple congenital anomalies-intellectual disability syndrome, and several other...

Zechi-Ceide syndrome is a rare condition that is known by several names, including occipital atretic cephalocele-unusual facies-large feet syndrome an...

Zellweger spectrum disorders are a group of severe conditions that fall under peroxisome biogenesis disorders. These conditions affect how certain cel...

Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder that has features similar to Zellweger syndrome. Peo...

Zerres Rietschel Majewski syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Ziegler-Huang syndrome is a rare condition about which current publicly available information is limited. It has been associated with changes in a gen...

Zika virus infectious disease is caused by a virus transmitted by mosquitoes. It can result in no symptoms or mild symptoms such as fever, red eyes (c...

Zimmermann-Laband syndrome is a rare condition that affects several parts of the body. It is characterized by an overgrowth of gum tissue (gingival fi...

Zimmermann-Laband syndrome 1 is a rare condition that occurs when there is a mutation in the KCNH1 gene. This genetic change defines the syndrome and...

Zimmermann-Laband syndrome 2 is a rare genetic disorder caused by a mutation in the ATP6V1B2 gene. It is one of the forms of Zimmermann-Laband syndrom...

Zimmermann-Laband syndrome 3 is a rare genetic disorder caused by a mutation in the KCNN3 gene. People with this condition can experience developmenta...

Zollinger-Ellison syndrome (ZES) is a rare condition that leads to severe peptic disease. It happens because of high levels of the hormone gastrin, ca...

Zygomycosis, also known as mucormycosis, is an infection caused by fungi belonging to the Zygomycota phylum. It most often affects the rhino-facial-cr...