Explore rare diseases in clinical trials
Check which rare diseases are currently being frequently studied.
See also our popular diseases glossary and drug database.
Starting by letter
To open the rare diseases glossary, select a letter from the list below.
Rare diseases starting with “h”
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Haemolytic uraemic syndrome
Haemolytic uraemic syndrome is a serious condition that damages small blood vessels, most commonly affecting the kidneys and often occurring after bacterial infection, particularly in young children.
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Haemophagocytic lymphohistiocytosis
Haemophagocytic lymphohistiocytosis is a rare and life-threatening condition where the immune system attacks the body’s own tissues instead of defending it against disease. Without prompt diagnosis and treatment, this severe inflammatory syndrome can lead to organ failure and death within months, but early intervention and proper care can save lives.
- 1
Haemophilia
Haemophilia is a rare inherited blood disorder in which blood does not clot properly, causing prolonged bleeding from injuries and sometimes internal bleeding that can damage joints and organs.
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Haemophilia A with anti factor VIII
Haemophilia A with anti factor VIII represents one of the most challenging complications in treating this inherited bleeding disorder. When the body creates antibodies against the very treatment meant to help, managing bleeding episodes becomes significantly more difficult.
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Haemophilia A without inhibitors
Haemophilia A is a hereditary bleeding disorder where blood does not clot properly due to a lack of clotting factor VIII. With proper treatment and care, people with this condition can lead full and active lives.
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Haemophilia B with anti factor IX
When the body’s immune system creates antibodies against the very treatment meant to help, managing haemophilia B becomes significantly more challenging.
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Haemophilia B without inhibitors
Haemophilia B, also known as Christmas disease, is an inherited bleeding disorder caused by a deficiency in clotting factor IX. While it predominantly affects males due to its X-linked inheritance pattern, effective treatment allows most people with this condition to lead normal, active lives.
- 2
Hairy cell leukaemia
Hairy cell leukaemia is a rare type of cancer that grows slowly in the blood and bone marrow, named after the unusual “hairy” appearance of the affected cells when viewed under a microscope.
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Hairy cell leukaemia recurrent
Hairy cell leukaemia is a rare type of blood cancer that often comes back after treatment, but patients can achieve further periods of remission with repeated therapy.
- 1
Hepatic angiosarcoma
Hepatic angiosarcoma is a rare but highly aggressive cancer that develops in the blood vessels of the liver. Though it accounts for less than 2% of all liver cancers, it is the third most common primary liver cancer and the most common malignant tumor arising from the liver’s blood vessels in adults.
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Hepatoblastoma
Hepatoblastoma is a very rare type of liver cancer that primarily affects babies and young children, most commonly before their third birthday. While the diagnosis can be frightening for families, advances in treatment combining chemotherapy and surgery have dramatically improved outcomes, with many children achieving complete recovery.
- 17
Hereditary angioedema
Hereditary angioedema (HAE) is a rare genetic condition that causes sudden, severe swelling in different parts of the body. Though unpredictable and potentially life-threatening, advances in treatment now offer hope for people living with this challenging disorder.
- 1
Hereditary angioedema with C1 esterase inhibitor deficiency
Hereditary angioedema with C1 esterase inhibitor deficiency is a rare genetic disorder that causes sudden, unpredictable episodes of severe swelling in different parts of the body, including the face, hands, feet, digestive system, and airways—where it can become life-threatening.
- 1
Hereditary ataxia
Hereditary ataxia represents a complex group of genetic disorders that cause progressive problems with balance, coordination, and movement, affecting thousands of people and their families around the world.
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Hereditary hypophosphataemic rickets
Hereditary hypophosphataemic rickets is a group of genetic disorders that prevent the kidneys from properly handling phosphate, a mineral essential for building strong bones and teeth. When phosphate levels drop too low, children develop bone abnormalities like bowed legs, while adults experience bone pain and weakness.
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Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathy is a group of inherited conditions that progressively damage the nerves connecting your brain and spinal cord to the rest of your body, causing muscle weakness, sensory changes, and foot problems that can affect your daily life.
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Hereditary neuropathic amyloidosis
Hereditary neuropathic amyloidosis is a rare inherited disease where abnormal proteins build up in the body’s nerves and organs, slowly causing damage that can affect sensation, movement, and many bodily functions.
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Hereditary optic atrophy
Hereditary optic atrophy is a group of inherited disorders that damage the optic nerve, causing progressive vision loss that typically begins in childhood or adolescence and affects both eyes.
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Hypereosinophilic syndrome
Hypereosinophilic syndrome is a rare group of blood disorders caused by an excess of white blood cells called eosinophils, which can damage organs throughout the body. Without treatment, this condition can be life-threatening, but with prompt diagnosis and care, more than 80% of people are alive five years after diagnosis.
- 1
Hyperoxaluria
Hyperoxaluria occurs when there is too much oxalate in the urine, leading to kidney stones and potentially serious kidney damage that can affect long-term health.


