All Rare Diseases

Giant Cell Tumour of Bone is a rare bone tumour that most often affects young adults. It is usually non-cancerous but ca...

Systemic lupus erythematosus (lupus) is a chronic autoimmune disease in which the immune system attacks the body's own t...

Sickle Cell Disease is an inherited blood disorder in which red blood cells become rigid and sickle-shaped, blocking blo...

Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the lungs and digestive system. It...

Spinal muscular atrophy is a genetic condition that causes muscle weakness and wasting. It affects a protein needed for ...

Motor neuron disease (MND), also known as ALS, is a progressive neurodegenerative condition that destroys the nerve cell...

Huntington's disease is a genetic condition that causes the gradual breakdown of nerve cells in the brain. It affects mo...

Duchenne muscular dystrophy is a genetic condition causing progressive muscle weakness, mainly affecting boys. It is cau...

Amyloidosis is a group of conditions where abnormal proteins called amyloid fibres build up in organs, causing progressi...

Sarcoidosis is a chronic inflammatory disease characterised by the formation of granulomas that can affect any organ but...

Haemophilia is a rare inherited bleeding disorder caused by deficiency of clotting factor VIII (Haemophilia A) or factor...

Scleroderma (systemic sclerosis) is a rare autoimmune connective tissue disease characterised by fibrosis of the skin an...

Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease in which scar tissue builds up in the lungs, making br...

Alopecia areata is an autoimmune condition that causes unpredictable hair loss, ranging from small patches to complete l...

Neuromyelitis Optica Spectrum Disorder is a rare autoimmune disease of the central nervous system that primarily attacks...

Myasthenia gravis is a chronic autoimmune condition in which the immune system attacks the connection between nerves and...

Pulmonary arterial hypertension is a rare, progressive condition causing high blood pressure in the arteries supplying t...

ANCA-associated Vasculitis is a group of rare autoimmune diseases characterised by inflammation of small blood vessels, ...

Glioblastoma is an aggressive cancer that starts in the supporting glial cells of the brain. It can cause headaches, sei...

Dystonia is a neurological movement disorder characterised by involuntary, sustained or repetitive muscle contractions c...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, causing fluid-filled c...

Fabry disease is a rare genetic condition where a missing enzyme causes a fatty substance to build up in blood vessel wa...

Myelodysplastic Syndrome encompasses a group of blood cancers in which the bone marrow produces abnormal, dysfunctional ...

Multiple myeloma is a cancer of plasma cells, a type of white blood cell found in the bone marrow. The abnormal cells cr...

Immune Thrombocytopenia is an autoimmune disorder in which the immune system destroys platelets, causing low platelet co...

Cushing's Syndrome is a complex hormonal condition caused by prolonged exposure to high levels of cortisol, most commonl...

Neurofibromatosis type 1 is a genetic condition that causes tumours called neurofibromas to grow on nerves, along with s...

Dermatomyositis is a rare autoimmune condition causing muscle inflammation and weakness, accompanied by characteristic s...

Phenylketonuria is a genetic condition where the body cannot properly break down an amino acid called phenylalanine. Wit...

Fragile X syndrome is the most common inherited cause of intellectual disability and the leading single-gene cause of au...

Congenital adrenal hyperplasia is a group of inherited conditions affecting the adrenal glands, most commonly caused by ...

Hereditary angioedema is a rare genetic condition causing recurrent episodes of severe swelling in the skin, abdomen, an...

Epidermolysis bullosa is a group of rare genetic conditions that cause extremely fragile skin that blisters and tears ea...

Achalasia is a rare disorder of the oesophagus that makes it difficult to swallow food and liquids. It occurs when the n...

Guillain-Barré Syndrome is a rare neurological disorder in which the immune system mistakenly attacks the peripheral ner...

Primary Biliary Cholangitis is a chronic autoimmune liver disease that slowly destroys the small bile ducts within the l...

Tuberous sclerosis complex is a genetic condition that causes non-cancerous tumours to grow in the brain and other vital...

Ehlers-Danlos syndrome is a group of genetic conditions affecting connective tissue. It causes joints to be unusually fl...

Acromegaly is a rare hormonal disorder caused by excess growth hormone production, usually from a benign pituitary tumou...

Rett syndrome is a rare genetic condition that affects brain development, mainly in girls. After a period of typical ear...

Familial Mediterranean Fever is the most common hereditary autoinflammatory disease, caused by mutations in the MEFV gen...

Trigeminal neuralgia causes sudden, severe, stabbing pain in the face, usually on one side. Attacks can be set off by ev...

Marfan syndrome is a genetic condition affecting connective tissue throughout the body, including the heart, blood vesse...

Moyamoya disease is a rare condition in which the large arteries at the base of the brain slowly narrow, and a network o...

Mitochondrial Disease refers to a group of genetic disorders caused by mutations in mitochondrial or nuclear DNA that im...

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours of chromaffin cells, which make adrenaline ...

Osteosarcoma is a rare cancer that starts in the bone, most often in the long bones around the knee or shoulder, and it ...

Narcolepsy is a chronic neurological condition caused by loss of orexin-producing neurons in the brain, causing excessiv...

Interstitial cystitis, also called bladder pain syndrome, is a long-term condition causing pain or pressure felt in the ...

Pompe disease is a rare genetic condition where glycogen builds up in cells because of a missing enzyme, causing progres...

Clear cell renal carcinoma is a cancer that begins in the lining of the small tubes of the kidney, named for the pale ap...

Squamous cell carcinoma of the oesophagus is a cancer that begins in the flat cells lining the food pipe. It often cause...

Myotonic dystrophy type 1 is the most common adult-onset muscular dystrophy, causing progressive muscle weakness, myoton...

Gaucher disease is a genetic condition where a fatty substance builds up in cells and organs due to a missing enzyme. It...

Idiopathic Intracranial Hypertension is a condition of raised pressure within the skull without an identifiable cause su...

Hirschsprung disease is a condition present from birth in which nerve cells are missing from the end of the bowel, so st...

Kawasaki disease is an illness that causes inflammation of blood vessels, mostly in young children. Typical features inc...

Congenital diaphragmatic hernia is a rare birth defect in which the muscle separating the chest and abdomen does not clo...

Multiple System Atrophy is a rare and fatal neurodegenerative disease that affects movement, balance, and the autonomic ...

B-cell chronic lymphocytic leukaemia is a slow-growing blood cancer in which abnormal B lymphocytes build up in the bloo...

Spinocerebellar Ataxia refers to a group of inherited progressive neurological disorders characterised by degeneration o...

Placenta accreta spectrum is a pregnancy condition in which the placenta grows too deeply into the wall of the uterus an...

Nasopharyngeal carcinoma is a cancer that starts in the nasopharynx, the space behind the nose and above the back of the...

Retinoblastoma is a rare cancer of the retina, the light-sensing layer at the back of the eye, and it almost always begi...

Wilson disease is a genetic condition where copper accumulates in the liver, brain, and other organs due to a faulty ATP...

Graft versus host disease happens when immune cells from a donor stem cell or bone marrow transplant treat the recipient...

Medulloblastoma is a rare cancerous brain tumour that starts in the cerebellum, the part of the brain controlling balanc...

Progressive Supranuclear Palsy is a rare brain disease that causes degeneration of cells in the brainstem and cerebral c...

Primary Sclerosing Cholangitis is a chronic progressive disease of the bile ducts characterised by inflammation and fibr...

Paroxysmal Nocturnal Haemoglobinuria is a rare acquired disorder of haematopoietic stem cells caused by a somatic mutati...

Eosinophilic Granulomatosis with Polyangiitis is a rare ANCA-associated systemic vasculitis characterised by severe asth...

Polycythaemia Vera is a myeloproliferative neoplasm in which the bone marrow overproduces red blood cells, causing blood...

Immunoglobulin A nephropathy is a kidney disease in which deposits of the antibody IgA build up in the filtering units o...

Osteonecrosis of the jaw is a condition in which an area of jawbone is exposed or dies and does not heal. It most often ...

Cholangiocarcinoma is a rare cancer that starts in the bile ducts, the tubes that carry bile from the liver and gallblad...

Central serous chorioretinopathy is an eye condition in which fluid builds up under the retina, the light-sensing layer ...

Takayasu arteritis is a rare form of vasculitis in which the immune system inflames the aorta and its main branches, cau...

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, causing progressive weakness ...

Von Willebrand Disease is the most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Will...

Thymoma is a rare tumour that grows in the thymus, a small gland behind the breastbone that helps the immune system deve...

Pleural mesothelioma is a rare cancer of the pleura, the thin lining around the lungs and inside the chest wall. It is s...

Still disease is a rare inflammatory condition that causes spiking fevers, a salmon-coloured rash, and joint pain and sw...

Prader-Willi syndrome is a complex genetic condition caused by loss of function of genes on chromosome 15. It causes hyp...

Turner syndrome is a chromosomal condition affecting females, caused by a missing or partially missing X chromosome. It ...

Friedreich ataxia is a progressive genetic condition that damages the nervous system and heart, causing loss of coordina...

Alport syndrome is a hereditary kidney disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes encoding type IV c...

Castleman disease is a rare disorder of the lymph nodes in which immune cells overgrow and nodes become enlarged. It can...

Oral submucous fibrosis is a chronic condition in which the tissues lining the mouth become scarred and stiff. It can ca...

Common Variable Immunodeficiency is the most common symptomatic primary antibody deficiency, characterised by low immuno...

Differentiated thyroid carcinoma is a cancer that starts in the follicular cells of the thyroid gland. It includes the p...

Charcot-Marie-Tooth disease is a group of inherited conditions that damage the peripheral nerves, causing progressive mu...

Addison's Disease is a rare disorder in which the adrenal glands do not produce sufficient steroid hormones, particularl...

Oesophageal atresia is a rare birth condition in which the oesophagus, the tube that carries food to the stomach, does n...

Upper tract urothelial carcinoma is a rare cancer that starts in the lining of the kidney's collecting system (the renal...

Retinopathy of prematurity is an eye condition that affects babies born very early, in which the blood vessels of the re...

Chronic myeloid leukaemia is a slow-growing blood cancer in which the bone marrow makes too many white blood cells. It i...

Primary central nervous system lymphoma is a rare cancer of the lymphatic system that starts in the brain, spinal cord, ...

Craniopharyngioma is a rare, non-cancerous brain tumour that grows near the pituitary gland and the base of the brain. I...

Perihilar cholangiocarcinoma is a rare cancer of the bile ducts that forms where the main ducts leave the liver. It can ...

Bronchopulmonary dysplasia is a chronic lung condition that develops in babies born very early, whose lungs are still im...

Primary ciliary dyskinesia is a rare genetic condition caused by defective cilia function, leading to chronic respirator...

Osteogenesis imperfecta (brittle bone disease) is a group of genetic conditions causing fragile bones that fracture easi...

Endophthalmitis is a severe inflammation of the inner tissues and fluids of the eye, most often caused by infection afte...

22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome, caused by a small deletion on chromosom...

Chordoma is a rare slow-growing bone tumour that arises from remnants of the notochord, the embryonic structure that hel...

Fetal alcohol syndrome is a condition caused by exposure to alcohol before birth. It can affect growth, facial features,...

Immunoglobulin A vasculitis is a condition in which small blood vessels become inflamed, most often in children. It typi...

Primary immunodeficiencies are a diverse group of over 450 genetic conditions that impair the immune system. Common vari...

Adrenocortical carcinoma is a rare cancer that starts in the outer layer (cortex) of the adrenal glands, which sit above...

Chronic thromboembolic pulmonary hypertension is a rare condition in which blood clots in the lungs do not fully clear a...

Primary Sjögren disease is a long-term autoimmune condition in which the immune system attacks the glands that make tear...

Rheumatic fever is an inflammatory illness that can follow a throat infection with group A Streptococcus bacteria, mostl...

Hereditary haemochromatosis is a genetic condition where the body absorbs too much iron from food, leading to iron build...

Infantile spasms is a rare and serious type of epilepsy that usually begins in the first year of life. Babies have clust...

Thrombotic thrombocytopenic purpura is a rare blood disorder in which tiny clots form in small blood vessels, using up p...

Angelman syndrome is a genetic condition affecting the nervous system that causes severe intellectual disability, speech...

Waldenström macroglobulinaemia is a rare slow-growing cancer of white blood cells in the bone marrow. The abnormal cells...

Von Hippel-Lindau Disease is a rare hereditary condition caused by mutations in the VHL tumour suppressor gene, predispo...

Autoimmune hepatitis is a rare long-term liver condition in which the immune system attacks the person's own liver cells...

Merkel cell carcinoma is a rare and aggressive skin cancer that usually appears as a firm, painless lump on sun-exposed ...

Hepatoblastoma is a rare cancer that starts in the liver, almost always in babies and young children. It often causes a ...

Tako-Tsubo cardiomyopathy is a sudden weakening of the heart muscle in which the left ventricle temporarily changes shap...

Microtia is a condition present from birth in which the outer ear is small or not fully formed. It can affect one or bot...

CADASIL is an inherited condition that damages the small blood vessels in the brain, caused by changes in the NOTCH3 gen...

NMDA receptor encephalitis is a rare autoimmune condition in which the immune system attacks receptors on brain cells. I...

Alpha-1 antitrypsin deficiency is an inherited condition where the body does not produce enough of a protective protein ...

Essential Thrombocythaemia is the most common myeloproliferative neoplasm, characterised by sustained elevation of plate...

Familial adenomatous polyposis is an inherited condition, usually caused by changes in the APC gene, in which hundreds t...

Antiphospholipid syndrome is an autoimmune condition in which the immune system makes antibodies that increase the tende...

Giant cell arteritis is a rare condition in which the large blood vessels, especially those in the scalp and head, becom...

Neuroblastoma is a cancer that develops from immature nerve cells of the sympathetic nervous system, most often in the a...

X-linked hypophosphataemia is a rare inherited bone condition caused by changes in the PHEX gene, which lead the kidneys...

Behcet's disease is a rare systemic vasculitis causing recurrent oral ulcers, genital ulcers, eye inflammation, and skin...

Bullous pemphigoid is a rare autoimmune skin disease in which the immune system attacks proteins that hold the layers of...

Dravet syndrome is a rare, severe form of epilepsy that begins in the first year of life, often with seizures triggered ...

Williams syndrome is caused by a deletion of approximately 25 genes on chromosome 7, including the elastin gene. It caus...

Noonan syndrome is a common genetic condition caused by mutations in RAS/MAPK pathway genes, most often PTPN11. It cause...

Tetralogy of Fallot is a congenital heart condition made up of four structural differences that reduce blood flow to the...

Hypersensitivity pneumonitis is a rare inflammatory lung disease caused by repeatedly breathing in dusts, moulds or othe...

Mantle cell lymphoma is a rare type of non-Hodgkin lymphoma that starts in B cells in the mantle zone of the lymph nodes...

Ependymoma is a rare tumour that arises from ependymal cells, which line the fluid-filled spaces of the brain and spinal...

Necrotising enterocolitis is a serious bowel condition that mainly affects newborn babies, especially those born very ea...

Classic Hodgkin lymphoma is a cancer of the lymphatic system, the network that helps the body fight infection. It is mar...

Perthes disease is a childhood hip condition in which the blood supply to the ball of the thigh bone is temporarily disr...

Hypophosphatasia is an inherited condition caused by changes in the ALPL gene, which lower an enzyme the body needs to h...

Gastrointestinal stromal tumour is a rare cancer that starts in specialised cells in the wall of the digestive tract, mo...

Homozygous familial hypercholesterolaemia is a rare inherited condition in which faulty genes on both copies severely li...

Follicular lymphoma is a slow-growing cancer of B cells, a type of white blood cell. It usually shows up as painless swo...

Hereditary haemorrhagic telangiectasia is an inherited condition in which blood vessels form abnormally. Small vessels o...

Intrahepatic cholestasis of pregnancy is a liver condition that usually appears in the third trimester. Bile flow from t...

Stevens-Johnson syndrome and toxic epidermal necrolysis are rare, severe reactions in which the skin and the moist linin...

Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by IDS enzyme deficienc...

Ameloblastoma is a rare, usually non-cancerous tumour that grows in the jaw, most often the lower jaw, from the tissue t...

Chronic inflammatory demyelinating polyneuropathy is a rare autoimmune condition in which the immune system damages the ...

Prolactinoma is a non-cancerous tumour of the pituitary gland that makes too much of the hormone prolactin. It can cause...

Thoracic outlet syndrome is a group of conditions in which nerves or blood vessels are squeezed in the narrow space betw...

Beta-thalassaemia is an inherited blood disorder caused by mutations in the HBB gene that reduce or eliminate production...

Chondrosarcoma is a rare cancer of the cartilage-producing cells, most often arising in the bones of the pelvis, hip, sh...

Tenosynovial Giant Cell Tumour (TGCT) is a rare, locally aggressive tumour arising from the synovial tissue of joints, t...

Brugada syndrome is a rare inherited heart rhythm disorder that can cause dangerous fast heartbeats from the lower chamb...

Medullary thyroid carcinoma is a rare cancer that starts in the C cells of the thyroid gland, which make the hormone cal...

Pyoderma gangrenosum is a rare inflammatory skin condition that causes painful, rapidly growing ulcers, most often on th...

Stargardt disease is the most common inherited macular dystrophy, usually caused by changes in the ABCA4 gene. It damage...

Rhabdomyosarcoma is a rare cancer of the soft tissues that arises from cells which would normally develop into skeletal ...

Immune-mediated necrotising myopathy is a rare autoimmune disease in which the immune system damages muscle fibres, caus...

Acute promyelocytic leukaemia is a rare, fast-moving type of acute myeloid leukaemia in which immature white blood cells...

Hemifacial spasm is a rare movement disorder that causes involuntary twitching or tightening of the muscles on one side ...

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the IDUA enzyme, leading to...

Retinitis pigmentosa is a group of inherited eye conditions in which the light-sensing cells of the retina gradually bre...

Lynch syndrome is an inherited condition that greatly raises the lifetime risk of bowel cancer and several other cancers...

Langerhans cell histiocytosis is a rare condition in which abnormal immune cells build up and form lesions in one or mor...

Complex regional pain syndrome is a rare condition that causes long-lasting, severe pain in a limb, usually after an inj...

Pemphigus vulgaris is a rare autoimmune disease in which the immune system attacks proteins that hold skin cells togethe...

Nephroblastoma, also called Wilms tumour, is a rare cancer of the kidney that mostly affects young children. It develops...

Achondroplasia is the most common inherited cause of disproportionate short stature. It affects how cartilage turns into...

Batten disease (neuronal ceroid lipofuscinosis) is a group of rare and fatal genetic neurological disorders that cause p...

Erdheim-Chester disease is a rare histiocytosis in which the body makes too many of a type of immune cell that builds up...

Kaposi sarcoma is a rare cancer of the cells lining blood and lymph vessels. It usually appears as purple, red or brown ...

Adult T-cell leukaemia/lymphoma is a rare cancer of white blood cells called T cells. It is caused by long-term infectio...

Fanconi anaemia is a rare inherited condition in which cells cannot properly repair damaged DNA. It often causes bone ma...

Maturity-onset diabetes of the young (MODY) is a group of inherited forms of diabetes caused by a change in a single gen...

A neurofibroma is a non-cancerous tumour that grows from the cells and tissue surrounding peripheral nerves. It can appe...

Fibrous dysplasia is a rare bone condition where normal bone is replaced by scar-like fibrous tissue, causing pain, defo...

Hypoplastic left heart syndrome is a rare heart condition present from birth, in which the left side of the heart is und...

Drug reaction with eosinophilia and systemic symptoms is a rare but serious reaction to a medicine. It usually appears t...

Pseudomyxoma peritonei is a rare condition in which mucus-producing tumour cells, usually starting in the appendix, spre...

Squamous cell carcinoma of the cervix is a cancer that starts in the flat surface cells covering the cervix, the lower p...

Chronic myelomonocytic leukaemia is a rare cancer of the blood and bone marrow that mainly affects older adults. It caus...

Central retinal artery occlusion is a blockage of the main artery that supplies blood to the retina at the back of the e...

Porphyria refers to a group of rare disorders caused by enzyme deficiencies in the heme biosynthesis pathway, affecting ...

Cushing disease is a rare hormone condition caused by a small, usually non-cancerous tumour of the pituitary gland that ...

Solitary fibrous tumour is a rare soft tissue tumour that can arise almost anywhere in the body, including the lining of...

Cystinosis is a rare inherited condition in which the amino acid cystine builds up inside cells, caused by changes in th...

Extranodal nasal NK/T cell lymphoma is a rare cancer of the immune system that most often starts in the nose or upper ai...

Inclusion body myositis is a rare muscle disease that mostly starts after the age of 50. It causes slowly worsening weak...

Median arcuate ligament syndrome occurs when a band of tissue in the diaphragm presses on the coeliac artery and the ner...

Burkitt lymphoma is a rare, fast-growing cancer of the B cells, a type of white blood cell. It can affect the lymph node...

Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual ...

Synovial sarcoma is a rare cancer of the soft tissues. It most often appears near large joints of the arms or legs, but ...

Liposarcoma is a rare cancer that starts in fat cells, most often in the thigh, the back of the abdomen (retroperitoneum...

Cerebral visual impairment is a vision problem caused by damage to, or differences in, the parts of the brain that proce...

Leiomyosarcoma is a rare cancer that develops from smooth muscle cells. It can arise in the uterus, the walls of blood v...

Angiosarcoma is a rare cancer that starts in the cells lining blood vessels or lymphatic vessels. It can arise in the sk...

Mucopolysaccharidosis type 4, also called Morquio syndrome, is a rare inherited condition in which the body cannot break...

Macrophage activation syndrome is a rare, life-threatening complication of some autoimmune and inflammatory diseases, mo...

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic condition caused by ACVR1 mutations, causing muscle...

Usher Syndrome is the leading genetic cause of combined deafness and blindness, caused by mutations in any of several ge...

Anaplastic large cell lymphoma is a rare type of non-Hodgkin lymphoma that arises from T cells, a kind of white blood ce...

Atypical haemolytic uraemic syndrome is a rare condition in which an overactive complement system, part of the immune sy...

May-Thurner syndrome occurs when an artery in the pelvis presses on the left iliac vein, slowing blood flow out of the l...

Sanfilippo syndrome (MPS III) is a rare lysosomal storage disorder caused by enzyme deficiencies that result in heparan ...

Metachromatic leukodystrophy is a rare lysosomal storage disease caused by arylsulfatase A deficiency, causing sulfatide...

MALT lymphoma is a rare, usually slow-growing cancer of B cells, a type of white blood cell, that arises in mucosal tiss...

Fibromuscular dysplasia is a rare condition in which the walls of medium-sized arteries develop abnormally, causing narr...

Idiopathic hypersomnia is a long-term sleep disorder in which people are excessively sleepy during the day despite a nor...

Niemann-Pick disease type C is a rare lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes, causing prog...

Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease that almost exclusively affects women, causing cystic ...

Transverse Myelitis is an inflammatory condition affecting the spinal cord that disrupts the nerve signals running throu...

Relapsing polychondritis is a rare autoimmune condition in which the immune system attacks cartilage, most often in the ...

Thymic carcinoma is a rare cancer that starts in the thymus, a small organ in the upper chest that is part of the immune...

Acute disseminated encephalomyelitis is a sudden inflammation of the brain and spinal cord that damages myelin, the prot...

Limb-Girdle Muscular Dystrophy encompasses more than 30 distinct genetic subtypes of progressive muscle disease affectin...

Insulinoma is a rare tumour of the pancreas that produces too much insulin. This can cause repeated episodes of low bloo...

Ataxia-telangiectasia is a rare progressive neurological condition caused by ATM gene mutations, impairing DNA repair. I...

Congenital myasthenic syndrome is a group of rare inherited conditions in which signals do not pass properly from nerves...

Ovarian hyperstimulation syndrome is a complication of fertility treatment in which the ovaries swell and fluid leaks in...

Budd-Chiari syndrome is a rare condition in which the veins that drain blood from the liver become blocked, usually by a...

Maple syrup urine disease is a rare inherited disorder in which the body cannot fully break down certain amino acids fro...

Cold agglutinin disease is a rare autoimmune condition in which antibodies attach to red blood cells at cool temperature...

Stiff Person Spectrum Disorder is a rare autoimmune neurological condition causing progressive muscle rigidity, painful ...

Placental insufficiency is a pregnancy condition in which the placenta does not deliver enough oxygen and nutrients to t...

Alkaptonuria is a rare inherited metabolic condition in which the body cannot fully break down an amino acid by-product ...

Loeys-Dietz syndrome is a rare inherited connective tissue disorder that weakens the walls of the arteries, particularly...

Superior mesenteric artery syndrome is a rare condition in which part of the duodenum, the first section of the small bo...

CHARGE syndrome is caused by mutations in the CHD7 gene and affects multiple organ systems including the eyes (coloboma)...

HELLP syndrome is a serious pregnancy complication involving breakdown of red blood cells, raised liver enzymes and a lo...

Krabbe disease is a rare lysosomal storage disorder caused by galactocerebrosidase (GALC) enzyme deficiency, causing rap...

Kabuki syndrome is a rare genetic condition caused by mutations in KMT2D or KDM6A genes, causing intellectual disability...

Oligodendroglioma is a rare, slow-growing tumour that arises from oligodendrocytes, the cells that support nerve cells i...

Polymyositis is a rare autoimmune disease in which the immune system attacks muscle fibres, causing inflammation and wea...

CDKL5 deficiency disorder is a rare genetic condition caused by changes in the CDKL5 gene. It usually begins with seizur...

PTEN hamartoma tumour syndrome is a rare inherited condition caused by changes in the PTEN gene. It leads to benign grow...

Cerebrotendinous xanthomatosis is a rare inherited disorder of bile acid production caused by changes in the CYP27A1 gen...

Tay-Sachs Disease is a rare inherited lysosomal storage disorder caused by mutations in the HEXA gene, resulting in the ...

Wolfram syndrome is a rare inherited condition that usually begins in childhood with diabetes mellitus and loss of visio...

Situs inversus totalis is a rare condition in which the major organs of the chest and abdomen are arranged as a mirror i...

Hydrops fetalis is a serious condition in which abnormal fluid builds up in two or more areas of an unborn baby's body, ...

Plasmacytoma is a rare tumour made of abnormal plasma cells, a type of white blood cell that makes antibodies. It usuall...

Cornelia de Lange syndrome is a rare genetic condition affecting multiple organ systems, caused by mutations in cohesin ...

Propionic acidaemia is a rare inherited metabolic condition in which the body cannot fully break down certain proteins a...

Aspartylglucosaminuria is a rare inherited disorder in which an enzyme needed to break down certain sugar-protein compou...

Peutz-Jeghers syndrome is an inherited condition, usually caused by changes in the STK11 gene, in which non-cancerous po...

Ornithine transcarbamylase deficiency is a rare inherited disorder of the urea cycle, the pathway the liver uses to clea...

Netherton syndrome is a rare inherited skin condition caused by changes in the SPINK5 gene. It causes red, scaly and inf...

MELAS is a rare inherited mitochondrial disorder in which the energy-producing parts of cells work poorly. It can cause ...

Deficiency of adenosine deaminase 2 is a rare inherited condition caused by changes in the ADA2 gene. It can inflame blo...

Klippel-Trénaunay syndrome is a rare condition in which blood and lymph vessels do not form normally in one part of the ...

Hermansky-Pudlak syndrome is a rare inherited condition that affects pigment in the skin, hair and eyes, and causes a bl...

Evans syndrome is a rare autoimmune condition in which the immune system attacks the body's own blood cells, usually the...

Fibrosarcoma is a rare cancer that starts in fibroblasts, the cells that make connective tissue. It can arise in soft ti...

Lysosomal acid lipase deficiency is a rare inherited condition in which an enzyme needed to break down fats inside cells...

Primary myelofibrosis is a rare cancer of the bone marrow in which scar tissue gradually replaces normal blood-forming t...

Stickler syndrome is an inherited disorder of connective tissue caused by changes in collagen genes. It can affect the e...

Parry-Romberg syndrome is a rare condition in which the skin, fat and sometimes muscle and bone on one side of the face ...

Lambert-Eaton myasthenic syndrome is a rare autoimmune condition in which antibodies disrupt the signal passing from ner...

Danon disease is a rare inherited condition caused by changes in the LAMP2 gene, which stop cells clearing waste properl...

Aicardi-Goutières syndrome is a rare inherited disorder in which the immune system behaves as though fighting a constant...

Biotinidase deficiency is an inherited condition in which the body cannot recycle biotin, a B vitamin needed to break do...

AADC deficiency is a rare inherited disorder in which the body cannot make enough dopamine and serotonin. Babies usually...

Alpha-Thalassaemia is an inherited blood disorder caused by mutations in the alpha-globin genes, resulting in reduced or...

Alström syndrome is a rare inherited condition caused by changes in the ALMS1 gene. It affects many parts of the body, c...

Dyskeratosis congenita is a rare inherited condition caused by problems with telomeres, the protective ends of chromosom...

Lafora disease is a rare inherited form of progressive myoclonic epilepsy that usually begins in the teenage years. Abno...

Locked-in syndrome is a rare condition in which a person is awake and aware but cannot move or speak, usually because of...

Congenital rubella syndrome occurs when a baby is infected with the rubella virus before birth, usually in early pregnan...

Smith-Magenis syndrome is a rare genetic condition caused by a missing piece of chromosome 17 or a change in the RAI1 ge...

Acute flaccid myelitis is a rare condition in which inflammation damages the grey matter of the spinal cord, causing sud...

Tyrosinaemia type 1 is a rare inherited condition in which the body cannot fully break down the amino acid tyrosine beca...

Livedoid vasculopathy is a rare skin condition caused by small blood clots forming in the tiny vessels of the lower legs...

Cockayne syndrome is a rare inherited condition caused by faults in the genes that repair DNA, most often ERCC6 or ERCC8...

Sotos syndrome is a rare genetic condition caused by changes in the NSD1 gene. It leads to fast growth in early childhoo...

Mucopolysaccharidosis type VI, also called Maroteaux-Lamy syndrome, is a rare inherited condition in which a missing enz...

Arachnoiditis is inflammation of the arachnoid membrane, one of the layers surrounding the spinal cord and nerve roots. ...

Multiple acyl-CoA dehydrogenase deficiency, also called glutaric acidaemia type 2, is an inherited condition in which th...

Poland syndrome is a rare condition present from birth in which the chest muscle on one side is underdeveloped or missin...

Triple A syndrome, also called Allgrove syndrome, is a rare inherited condition caused by changes in the AAAS gene. It t...

WHIM syndrome is a rare inherited immune disorder named for its main features: warts, low antibody levels, repeated infe...

Alpha-mannosidosis is a rare inherited lysosomal storage disease caused by faults in the MAN2B1 gene, which leave the bo...