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Aniridia renal agenesis psychomotor retardation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1064DefinitionAn extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor…
Pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy….
Testotoxicosis
Testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. The disease generally presents between 2 and 4 years of age. Patients have accelerated growth, early development of secondary sexual characteristics and reduced adult height. Testotoxicosis is caused by an activating mutation of the luteinizing hormone receptor…
Barraquer-Simons syndrome
Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen.[1] Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness.[1] It affects females more often than males. The fat loss usually has a 18 month course, but can…
Apocrine carcinoma
Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body.[1][2] The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly…
Arhinia choanal atresia microphthalmia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1135 Definition A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Visit the Orphanet disease page for more resources.
Trimethylaminuria
Trimethylaminuria causes the body to produce a fishy odor that is released in the sweat, urine, breath, and reproductive fluids. People with trimethylaminuria are unable to break down trimethylamine. Trimethylamine comes from specific chemicals (choline, carnitine, TMAO) found in certain foods. The excess trimethylamine builds up and is the source of the odor. There are no…
Superior mesenteric artery syndrome
Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum.[1] Symptoms vary based on severity, but can be severely debilitating.[2] Symptoms may…
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting eyelid folds (palpebral fissures), short…
Childhood apraxia of speech
Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls.[1] Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech.[2] In many cases, the underlying cause…
Furunculous myiasis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 591 Definition Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). Epidemiology The prevalence is…
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female…
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2084 Definition Glaucoma-ectopia-microspherophakia-stiff jointsshort stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It…
Autosomal dominant deafness-onychodystrophy syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79499 Definition Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. Epidemiology The prevalence is unknown…
PACS1-related syndrome
PACS-1 related syndrome causes intellectual disability, developmental delay, and distinctive facial features. This condition is present from birth. Symptoms of PACS-1 related syndrome may include low muscle tone, feeding difficulties, constipation, seizures, and heart defects. PACS1-related syndrome is caused by a specific genetic variant in the PACS1 gene. In most cases, this gene variant is not inherited, but occurs as a…
Mesangial proliferative glomerulonephritis
Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol…
MYH-associated polyposis
MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer.[1][2] This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type…
Swyer syndrome
Swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development (DSD). In Swyer syndrome, people with one X chromosome and one Y chromosome, normally present in males, are born with female external genitalia and underdeveloped gonads (ovaries or testes) known as streak gonads. Most people with Swyer syndrome are…
Osteopetrosis autosomal recessive 5
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…
Granulomatous rosacea
Granulomatous rosacea is a type of rosacea, a long-term (chronic) skin condition involving inflammation of the cheeks, nose, chin, forehead, or eyelids.[1][2] Rosacea causes redness and pimples, mainly across the face. Granulomatous rosacea is a type of rosacea that occurs mainly around the cheeks, eyes, and mouth. The symptoms include yellowish-brown or pink bumps (papules) on the…
Ayazi syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1435 Definition Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also…
Hepatic venoocclusive disease with immunodeficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79124 Definition Hepatic veno-occlusive diseaseimmunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Epidemiology Prevalence…
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221043 Definition Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal…
Hypotrichosis simplex
Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all…
Brachydactyly type A6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93382 Definition Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has…
HMG CoA synthetase deficiency
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Tylosis with esophageal cancer
Tylosis with esophageal cancer (TOC)is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma…
Bilateral frontal polymicrogyria
Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral…
POLR3-Related Leukodystrophy
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Linear lichen planus
Linear lichen planus (LLP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In LLP, specifically, affected people develop itchy, purple, flat-topped papules (bumps) in a linear distribution along the lines of Blaschko. Although these papules can be found anywhere on the body, they most commonly affect…
Meier Blumberg Imahorn syndrome
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Bowing of legs, anterior with dwarfism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3344 Definition Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature….
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood,…
Lambert syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1296 Definition Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and…
Glomerulonephritis
Glomerulonephritis is a type of kidney disease in which there is inflammation of the glomeruli, the tiny filters that remove excess waste and fluids from the blood.[1][2] It may be acute or chronic (coming on gradually), and may occur on its own (primary) or be caused by another condition (secondary).[1] Signs and symptoms may depend on the type and…
Intravenous leiomyomatosis
Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle…
Scleredema
Scleredema is a form of cutaneous mucinosis, a diverse group of rare skin conditions that are characterized by an accumulation of mucin (a jelly-like complex carbohydrate substance) in the skin. Signs and symptoms of this condition include hardening and thickening of the skin which may restrict movement. Skin in affected areas may be red or…
Juvenile dermatomyositis
Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and…
Knobloch syndrome
Knobloch syndrome is characterized by severe vision problems and skull defects.[1] The most common features include extreme nearsightedness (high myopia), recurrent retinal detachment, and occipital encephalocele.[1][2] There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. Knobloch syndrome type I is caused by mutations in the COL18A1 gene. The genes associated with Knobloch syndrome…
COG5-CDG (CDG-IIi)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263487 Definition COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and…
Squamous cell carcinoma
Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on…
Lethal congenital contracture syndrome 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137776 Definition Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the…
Carnosinemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1361 Definition Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. Epidemiology About 30 individuals have been reported worldwide. Etiology The gene associated with this disease has not been identified. The…
Limb-girdle muscular dystrophy type 2H
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1878 Definition A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second…
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. People with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuria. When the condition begins early in life, babies have difficulty gaining weight (failure to thrive), feeding…
Lopes Gorlin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2832 Definition Short tarsus absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Epidemiology It has been…
Central congenital hypothyroidism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 226298 Definition Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the…
Lupus nephritis
Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus.[1] The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body.[1] This condition typically occurs in people aged 20 to 40…
MOMO syndrome
MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of the syndrome instead of macrosomia, as macrosomia has…
Ovarian carcinosarcoma
Ovarian carcinosarcoma, also known as a malignant mixed mullerian tumor (MMMT) of the ovary, is a rare, aggressive cancer of the ovary with characteristics of two types of cancer: carcinoma and sarcoma.[1] Because women with this cancer often have no symptoms, more than half of women are diagnosed at an advanced stage.[2] When present, symptoms may include pain…
Chancroid
Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who…
Uncombable hair syndrome
Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It is usually characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age.[1] Most cases are…
Megalocornea-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2479 Definition Megalocorneaintellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing,…
Ellis-Van Creveld syndrome
Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of…
Microcephalic primordial dwarfism Toriello type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2643 Definition A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. Visit…
Chromosome 12p duplication
Chromosome 12p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Omodysplasia 1
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Spondyloepimetaphyseal dysplasia Missouri type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93356 Definition Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae…
Mosaic trisomy 8
Mosaic trisomy 8 is a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body’s cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary, but may include distinctive facial features; intellectual disability;…
Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood.[1] Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to…
Multifocal choroiditis
Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort.[1] Though the cause is unknown, multifocal…
Chromosome 8q24.3 deletion syndrome
Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney…
Tubular aggregate myopathy
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved.[1] Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue.[1][2][3] Affected individuals may have an unusual…
Neonatal Onset Multisystem Inflammatory disease
Neonatal onset multisystem inflammatory disease (NOMID) is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. Individuals with NOMID have a skin rash that is present from birth and persists throughout life. Other symptoms may include: headaches, seizures, and vomiting resulting from chronic meningitis (inflammation of the…
Neonatal severe hyperparathyroidism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 417 Definition Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. Epidemiology The prevalence is unknown. Clinical description The clinical manifestations are early (with…
Pfeiffer Kapferer syndrome
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Phosphoserine aminotransferase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284417 Definition Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia….
Oculoauriculofrontonasal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 398156 Definition Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia,…
Pyridoxal 5′-phosphate-dependent epilepsy
Pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic metabolic disorder. Babies born with this disorder are not able to make enough Vitamin B6 and this causes the baby to start having seizures soon after they are born (also called early onset or neonatal onset seizures). The normal drugs to treat seizures (anti-seizure medications or anti-convulsants) do…
Polymicrogyria
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may…
Coccygodynia
Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury. [1]
Osteoporosis oculocutaneous hypopigmentation syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2786 Definition Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. Visit the Orphanet disease page…
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