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Cystic adventitial disease

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Progressive familial heart block type 1A

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Donnai-Barrow syndrome

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Q87.8

Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or…

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Hemifacial hyperplasia strabismus

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Q67.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1241 Definition Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild…

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DEAF1-associated disorders

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DEAF1-related disorders are neurologic diseases that mainly present with intellectual disability, speech impairment and motor developmental delay.[1][2] Additional features that have being described include seizures, brain malformations, behavioral problems, autism, stomach and/or intestinal problems, and skeletal problems (flat foot or hip dislocation). Some people with DEAF1-related disorders may also have some features that resemble another disease…

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Congenital extrahepatic portosystemic shunt

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Congenital extrahepatic portosystemic shunt (CEPS) occurs when the blood vessels that go to the liver do not form correctly during fetal development. Toxins, that are normally removed by the liver, build up in the blood stream and can lead to symptoms such as decreased oxygen to the brain (hypoxia) and loss of brain function (hepatic…

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Orofaciodigital syndrome 13

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Q87.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141330 Definition Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and…

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Absent patella

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Q74.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86789 Definition Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. Visit the Orphanet disease page…

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Acheiropody

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Q74.8

Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the…

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Erythema multiforme

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Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications,…

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Methylmalonic acidemia

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Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises.[1] Symptoms of a decompensation event include poor feeding, vomiting, trouble breathing, and lack of energy (lethargy)….

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Fryns syndrome

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Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many indiivduals with this condition have defects of the diaphragm such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move…

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Acrofacial dysostosis Rodriguez type

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Q75.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1788 Definition A rare multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The…

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Diffuse idiopathic skeletal hyperostosis

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Diffuse idiopathic skeletal hyperostosis (DISH) is a common skeletal disorder characterized by unusual, new bone formation. The new bone forms most often where ligaments and tendons (connective tissues that connect bones) join bone (entheseal area), but there is also a generalized hardening of bones and bone overgrowth (hyperostosis).[1] Although these changes are most often seen in…

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Acro-pectoro-renal field defect

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Distal myopathy with vocal cord weakness

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G71.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 600 Definition Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles)…

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Acute flaccid myelitis

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Acute flaccid myelitis (AFM) is a condition that affects the spinal cord leading to muscle weakness and loss of reflexes. Most people who develop AFM have had a viral illness with flu-like symptoms one to four weeks before symptoms of AFM. Symptoms of AFM include sudden onset (acute) of weakness in the arm(s) or leg(s),…

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Autosomal dominant centronuclear myopathy

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G71.2

Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don’t develop…

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Drug induced dyskinesia

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Drug induced dyskinesia is an involuntary movement disorder. Signs and symptoms include repetitive and irregular motions of the mouth, face, limbs and/or trunk.[1] Treatment with antipsychotic drugs and levodopa (commonly used to treat Parkinson disease) are well recognized causes of drug-induced dyskinesia.[1][2][3] Dyskinesia develops in around 40% of people with Parkinson’s disease who have been on levodopa treatment…

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Epithelial-myoepithelial carcinoma

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Isolated growth hormone deficiency type 1B

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Neural tube defects

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Neural tube defects (NTDs) refers to a group of abnormalities resulting from abnormal development of the brain, spine and/or spinal column. During the development of an affected embryo, a structure called the neural tube does not close completely as it should, resulting in a hole somewhere along the spinal column. Specific examples of types of…

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Spinal muscular atrophy type 4

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83420 Definition Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the…

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Junctional epidermolysis bullosa

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Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type.[1] The Herlitz type of JEB is very severe, and individuals with this condition often do…

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WAGR syndrome

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C64

WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.[1] WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range of developmental…

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Ectodermal dysplasia trichoodontoonychial type

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Q82.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1818 Definition Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation,…

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Periodontal Ehlers-Danlos syndrome

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Q79.6

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75392 Definition Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. Clinical description EDS type VIII is the rarest form of EDS and…

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Pseudopseudohypoparathyroidism

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Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.[1][2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[3] Some people…

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Telfer Sugar Jaeger syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2885 Definition Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with…

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Pontocerebellar hypoplasia type 6

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Q04.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166073 Definition Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and…

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Mycosis fungoides

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Mycosis fungoides is a disease in which Tcell lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. This condition is one of the most common types of T-cell lymphoma. Mycosis fungoides is characterized by a scaly, red rash that develops on the skin, particularly on areas that are not usually…

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Pilotto syndrome

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Enteropathica

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Alopecia universalis onychodystrophy vitiligo

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GOSR2-related progressive myoclonus ataxia

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G40.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280620 Definition A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia,…

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Punctate porokeratosis

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Punctate porokeratosis is a skin condition that appears in adulthood as many, tiny, ridgelike bumps on the palms of the hands and soles of the feet. These bumps may slowly spread over the skin and usually do not cause symptoms, though they sometimes cause itching or discomfort while walking. Individuals with this condition often develop other types of porokeratosis…

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Exercise-induced hyperinsulinemic hypoglycemia

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Exercise induced hyperinsulinemic hypoglycemia is characterized by a sudden and exaggerated spike in insulin and drop in blood sugar levels. The condition is triggered by vigorous exercise. Signs and symptoms include fainting (syncope),[1] shakiness, nervousness, sweating, dizziness or light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.[2]

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Anaplastic ganglioglioma

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Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The…

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Progressive transformation of germinal centers

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Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. Adults are more…

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Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3363 Definition Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Visit the Orphanet disease page…

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Anaplastic small cell lymphoma

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Radius absent anogenital anomalies

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Fatal familial insomnia

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A81.8

Fatal familial insomnia (FFI) affects the thalamus, the part of the brain that controls the sleep-wake cycle. Symptoms typically begin between the ages of 40-60 years. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. These symptoms tend…

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Angioma hereditary neurocutaneous

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D18.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1062 Definition A disorder characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal…

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Rasmussen encephalitis

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Rasmussen encephalitis is a chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It most often occurs in children under the age of 10, although adolescents and adults may also be affected. Rasmussen encephalitis is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation…

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Leucine-sensitive hypoglycemia of infancy

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Anomalous origin of right pulmonary artery familial

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Rippling muscle disease

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Rippling muscle disease (RMD) is a rare condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. Signs and symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely. It is characterized by signs of increased muscle irritability, including percussion-induced rapid contractions…

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Progressive myoclonic epilepsy

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Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy.[1] Other features include dementia, dystonia, and trouble…

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Laryngeal cleft

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A laryngeal cleft is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngeal cleft occurs when these structures do not develop normally in an embryo,…

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Sacral plexopathy

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Spinocerebellar ataxia 26

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G11.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101112 Definition A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. Epidemiology To date, only 23…

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Fibro-adipose vascular anomaly

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A fibro-adipose vascular anomaly (FAVA) is a rare mass that develops within a muscle. It is made up of abnormal blood vessels and tough, fibrous, fatty tissue. It most often involves a single limb, which may appear slightly enlarged. Common signs and symptoms include pain, loss of mobility, and visible veins. Diagnosis is often delayed…

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Jejunal atresia

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Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery). This leads to an…

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ZAP-70 deficiency

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D81.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 911 Definition A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ Tcells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. Visit the Orphanet disease page for more…

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Fibrosing mediastinitis

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Fibrosing mediastinitis is a condition that affects the area between the lungs (mediastinum) which contains the heart, large blood vessels, windpipe (trachea), esophagus, and lymph nodes. People with fibrosing mediastinitis have varying amounts of scar tissue in the mediastinum which may cause problems for the organs located there.[1] For example, some affected people may develop…

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Autosomal recessive polycystic kidney disease

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Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person.[1] The signs of ARPKD frequently begin before…

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Severe infantile axonal neuropathy

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Fitzsimmons-Guilbert syndrome

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Pulmonary arteriovenous malformation

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Pulmonary arteriovenous malformation (PAVM) is a condition that affects blood flow between the heart and the lungs. Affected people have an abnormal connection between the pulmonary vein (carries blood from the lungs to the heart) and pulmonary artery (carries blood from the heart to the lungs). As a result, blood may not be properly oxygenated…

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Snowflake vitreoretinal degeneration

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H35.5

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91496 Definition Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described…

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Microcephaly brain defect spasticity hypernatremia

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G98

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2523 Definition Microcephaly-brain defectspasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia…

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Familial joint instability syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2295 Definition A rare, genetic, dermis elastic tissue disease characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also…

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Spirochetes disease

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Galactokinase deficiency

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Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that impairs the body’s ability to process and produce energy from a simple sugar called galactose. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood.[1] Galactose is present in many foods, including all dairy products, many baby formulas, and…

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Feigenbaum Bergeron Richardson syndrome

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I70.9

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1192 Definition A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic…

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Symmetrical thalamic calcifications

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1314 Definition Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. Epidemiology It is an extremely rare condition,…

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Left-sided gallbladder

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Atypical mycobacteriosis, familial

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T-cell/histiocyte rich large B cell lymphoma

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300857 Definition Tcell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease…

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Gnathodiaphyseal dysplasia

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53697 Definition Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal…

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Dominant dystrophic epidermolysis bullosa

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Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later…

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Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2

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Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2) is a rare neurological disease characterized by early-childhood onset of muscle weakness and loss of muscle tissue (muscle atrophy), mostly affecting the muscles of the thighs. It is a subtype of the group of diseases known as spinal muscular atrophy.[1][2][3] Symptoms include delayed walking, waddling gait,…

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Trichodysplasia xeroderma

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Glaucoma 3 primary infantile B

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Spastic paraplegia 17

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100998 Definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical….

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Trochleitis

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Trochleitis is the swelling of structures in the eye that help control eye movement, specifically the oblique tendon and surrounding tissues.[1][2][3] Trochleitis may be isolated (occur alone or with migraine) or develop in association with an inflammatory condition, such as lupus or arthritis.[1][4][5][2] Signs and symptoms include aching and/or stabbing pain in the inner orbit…

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Glutathione synthetase deficiency

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D55.1

Glutathione synthetase deficiency is a genetic metabolic disorder that affects the body’s ability to produce an important substance called glutathione. People with glutathione synthetase deficiency do not have enough of the molecule called glutathione synthetase, which helps the body produce glutathione. People with glutathione synthetase deficiency can have mild, moderate, or severe disease. The signs and symptoms…

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OPA3 defect

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E71.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67047 Definition 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. Epidemiology The vast majority of reported cases involved the Iraqi-Jewish population,…

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Visual snow syndrome

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Visual snow syndrome affects the way the visual information is processed by the brain and eyes. People with visual snow syndrome see many flickering tiny dots, like snow or static, that fill the entire visual field. Other visual symptoms include seeing blobs of varying size and shape (floaters) and continuing to see images after they are out…

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Radial ray hypoplasia choanal atresia

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3026 Definition An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. Epidemiology It has been reported in a father and his two daughters. Clinical description The radial ray involvement varies…

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Irons Bhan syndrome

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Winchester syndrome

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Hemochromatosis type 3

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Hemochromatosis type 3 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms…

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Bangstad syndrome

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E31.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1227 Definition Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH,…

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Hepatic veno-occlusive disease

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 890 Definition Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. Epidemiology Prevalence is unknown but hepatic VOD…

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Bardet-Biedl syndrome 6

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Leukonychia totalis

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Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate.[1] It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person’s lifetime.[2] The inherited forms can be caused by mutations in the PLCD1 gene…

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Battaglia-Neri syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1948 Definition Epilepsymicrocephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once,…

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Santos Mateus Leal syndrome

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Beemer Ertbruggen syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1237 Definition Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad…

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Morse-Rawnsley-Sargent syndrome

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Q04.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2570 Definition Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine…

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Tièche-Jadassohn nevus

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Bilateral frontoparietal polymicrogyria

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Q04.3

Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes…

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Hyperacusis

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Hyperacusis is a hearing disorder that results in difficulty tolerating sounds that would not bother most people. This condition may occur due to many different causes, such as head injury, viral infections, or neurological disorders. In some people with hyperacusis, sounds are perceived as being much louder than they would be by someone without this disorder….

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Gollop Coates syndrome

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Hyperprolinemia type 2

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Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a…

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Birk-Barel syndrome

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Q87.8

Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the…

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Hypoplastic right heart syndrome

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Q22.6

Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart…

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