Disease Directory

HSD10 mitochondrial disease is a rare, life-threatening neurometabolic condition that primarily affects the central nervous system and heart. It is ca...

HTRA1-related autosomal dominant cerebral small vessel disease, also known as HTRA1-related autosomal dominant cerebral angiopathy, is a rare conditio...

Haddad syndrome is a rare congenital disorder in which two conditions occur together. It includes congenital central hypoventilation syndrome (CCHS),...

Hailey-Hailey disease, also known as benign chronic familial pemphigus of Hailey-Hailey, is a rare skin condition that mainly affects areas such as th...

Haim-Munk syndrome is a rare genetic disorder that affects the skin, teeth, nails, and bones. It is characterized by thick skin on the palms and soles...

Hall-Riggs syndrome is a very rare condition that affects multiple parts of the body. It is characterized by a smaller than normal head size (microcep...

Hallermann-Streiff syndrome is a rare genetic condition that mainly affects the head and face. It is marked by a bird-like appearance with a beak-shap...

Hao-Fountain syndrome is a rare genetic disorder that affects development. People with this condition experience global developmental delays, intellec...

Hao-Fountain syndrome due to 16p13.2 microdeletion is a rare condition that occurs due to a partial deletion of the short arm of chromosome 16. This g...

Hao-Fountain syndrome due to USP7 mutation, also known as USP7-related neurodevelopmental disorder, is a rare condition linked to changes in the USP7...

Happle-Tinschert syndrome (HTS) is a rare multisystem disorder. It is most visibly marked by areas of lighter and darker skin that follow specific pat...

Harel-Yoon syndrome is a neurodevelopmental disorder that affects several aspects of development. It is characterized by delayed psychomotor developme...

Harrod syndrome is a rare condition that affects several parts of the body. It is noted for its combination of intellectual deficits, distinctive faci...

Hartnup disease is a rare metabolic disorder that affects how the body processes certain neutral amino acids. In this condition, the kidneys and gastr...

Information about overview is currently limited for this condition.

Hashimoto-Pritzker syndrome, also known as congenital Langerhans cell histiocytosis, is a rare variant of Langerhans cell histiocytosis. People with t...

Hb Bart's hydrops fetalis is a rare and severe blood disorder that occurs when variations affect all four copies of the alpha hemoglobin genes, specif...

Heiner syndrome, also known as cow's milk hypersensitivity, is a condition that primarily affects infants. It is a type of food-induced pulmonary hype...

Heinz body anemia is a rare blood disorder characterized by the formation of abnormal clumps of hemoglobin in red blood cells, known as Heinz bodies....

Hendra virus infection is a rare viral illness caused by the Hendra virus. People with this condition often develop flu-like symptoms such as fever, m...