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Cleft hand absent tibia

1-9 / 1 000 000
Q73.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3329DefinitionTibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.EpidemiologyThe incidence is estimated to be approximately 1 in 1,000,000 live births.Clinical descriptionThe expression of the phenotype is…

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Mucopolysaccharidosis type VI

1-9 / 1 000 000
E76.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 583 Definition Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. Epidemiology Birth prevalence is…

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Papillon Lefevre syndrome

1-9 / 1 000 000
Q82.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 678 Definition Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. Epidemiology The prevalence is estimated between 1/250,000 and 1/1,000,000 individuals. The male to female ratio is 1:1….

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Intraocular melanoma

1-9 / 100 000
C69.3

Intraocular melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract.[1] The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the…

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Waardenburg syndrome

1-9 / 100 000
E70.3

Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a…

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Miyoshi myopathy

1-9 / 1 000 000
G71.0

Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs.[1] The first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. Over…

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Chronic recurrent multifocal osteomyelitis

1-9 / 1 000 000
M86.3

Chronic recurrent multifocal osteomyelitis (CRMO) causes abnormal inflammation to occur in and around the bones. Symptoms usually begin in childhood but can occur at any age. Symptoms may include episodes of pain and joint swelling, skin redness, and sometimes a fever. In some cases, CRMO leads to abnormal bone growth, bone deformity, and fractures. Symptoms…

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Harding ataxia

1-9 / 100 000
G11.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1177 Definition Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes,…

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X-linked dominant chondrodysplasia punctata 2

1-9 / 1 000 000
Q77.3

X-linked dominant chondrodysplasia punctata 2 (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP….

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Amyloidosis AA

1-5 / 10 000
E85.3

Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body’s organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. Infection or inflammation in the body causes an increased amount…

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Dystrophic epidermolysis bullosa

1-9 / 1 000 000
Q81.2

Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB…

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47 XXX syndrome

1-5 / 10 000
Q97.0

47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female’s cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or…

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Acute lymphoblastic leukemia

1-5 / 10 000
C91.0

Acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).[1] It may develop in children or adults. ALL spreads to the blood fairly quickly, and then may spread to other areas of the body such as the lymph nodes, liver, spleen, central…

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Recurrent respiratory papillomatosis

1-9 / 100 000
-

Recurrent respiratory papillomatosis (RRP) is a rare viral disease where tumors (papillomas) grow in the air passages leading from the nose and mouth into the lungs (respiratory tract). There are two types, a juvenile-onset form and an adult-onset form. The tumors can cause a hoarse voice, chronic cough, and difficulty breathing. They may vary in…

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Oculocutaneous albinism type 1B

1-9 / 100 000
E70.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79434 Definition Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. Epidemiology The…

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Aplastic anemia

1-9 / 1 000 000
D61.0

Aplastic anemia is a blood disorder caused by failure of the bone marrow to make enough new blood cells. Bone marrow is a sponge-like tissue inside the bones that makes stem cells that develop into red blood cells, white blood cells, and platelets.[1] Symptoms may include fatigue, weakness, dizziness, shortness of breath, frequent infections, and bleeding….

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Primary progressive aphasia

1-9 / 100 000
G31.0

Primary progressive aphasia (PPA) affects a person’s ability to use language to communicate. This includes difficulty making or understanding speech (aphasia).[1] PPA is a specific type of a more general disease called frontotemporal dementia.[2] PPA can be classified into three distinct types which include:[1] Progressive non-fluent aphasia (PNFA) Semantic dementia (SD) Logopenic progressive aphasia (LPA) PPA…

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Glioma

1-5 / 10 000
-

Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma tumors that develop from star-shaped glial cells called astrocytes Ependymomas tumors that…

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Autosomal dominant optic atrophy plus syndrome

1-9 / 1 000 000
H47.2

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a rare syndrome that causes vision loss, hearing loss, and symptoms affecting the muscles. The syndrome is associated with degeneration of the optic nerve (optic atrophy). The optic nerve sends signals about what the eyes are seeing to the brain. When there is optic nerve damage,…

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Granulomatosis with polyangiitis

1-9 / 100 000
M31.3

Granulomatosis with polyangiitis (GPA) is a type of vasculitis or swelling (inflammation) of the blood vessels. The disease can cause swelling of the blood vessels anywhere in the body but mainly impacts the sinuses, nose, trachea (windpipe), lungs, and kidneys. The swelling can limit the flow of blood to these body parts, causing damage. Symptoms of…

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Axenfeld-Rieger syndrome

1-9 / 1 000 000
Q13.8

Axenfeld-Rieger syndrome is a group of disorders that mainly affects the development of the eye. Common eye symptoms include cornea defects and iris defects. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, a condition…

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Hereditary neuropathy with liability to pressure palsies

1-9 / 100 000
G60.0

Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder that affects peripheral nerves, causing the nerves to be highly sensitive to pressure. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity. While some people never realize they have the disorder, others experience prolonged disability….

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Hypokalemic periodic paralysis

1-9 / 100 000
G72.3

Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia).[1] Episodes typically involve a temporary inability to move muscles in the arms and legs.[2] The first attack usually occurs in childhood or adolescence. Attacks can last for hours or days, and the frequency of attacks varies among people…

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Bullous pemphigoid

1-5 / 10 000
L12.0

Bullous pemphigoid is a skin disorder characterized by large blisters. The blisters are usually located on the arms, legs, or middle of the body. In some people, the mouth or genitals are also affected.[1][2] The blisters may break open and form ulcers or open sores.[1] Bullous pemphigoid usually occurs in older persons and is rare…

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Mantle cell lymphoma

1-9 / 100 000
C83.1

Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkin’s lymphomas (NHL). NHL’s are cancers that affect the the lymphatic system (part of the immune system). In MCL, there are cancerous B-cells (a type of immune system cell). The cancerous B-cells are within a region of the lymph node known as the…

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Mucopolysaccharidosis type IV

1-5 / 10 000
E76.2

Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare metabolic condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans. As a result, toxic levels of these sugars accumulate in cell structures called lysosomes, leading to the various signs and symptoms associated with the…

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Chronic granulomatous disease

1-9 / 1 000 000
D71

Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells. People with this condition have immune systems that do not function properly, leaving the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. The features of this condition usually develop in infancy or early childhood; however, milder forms may…

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Netherton syndrome

1-9 / 1 000 000
Q80.8

Netherton disease is a rare disorder affecting the skin, hair and immune system. Symptoms are present at birth and include red, scaly skin. Other symptoms include outbreaks of red, circular scaly rashes, thin, fragile hair (bamboo hair), and immune reactions such as hay fever, asthma, itchy skin, and eczema. Dehydration and infection are common and…

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Congenital lobar emphysema

1-9 / 100 000
Q33.8

Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress…

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Huntington disease

1-9 / 100 000
G10

Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins….

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Double outlet right ventricle

1-5 / 10 000
Q20.1

empty

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Craniopharyngioma

1-9 / 100 000
D44.4

Craniopharyngioma is a slow-growing, non-cancerous brain tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain which produces several important hormones) and the hypothalamus (an endocrine organ which controls the release of hormones by the pituitary gland).[1][2][3] This tumor most commonly affects children between 5 and 10 years of age; however,…

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Familial partial lipodystrophy

1-9 / 1 000 000
E88.1

Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. Specifically, fat is lost in the arms, legs, and hips, and gained around the face and liver. Symptoms usually develop around puberty and include problems breaking down food and resistance to the hormone that helps control…

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Epidermolysis bullosa simplex

1-9 / 100 000
Q81.0

Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at…

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Kallmann syndrome

1-9 / 100 000
E23.0

Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It…

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Fetal thalidomide syndrome

1-9 / 1 000 000
Q86.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3312 Definition Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of…

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Paroxysmal cold hemoglobinuria

1-9 / 1 000 000
D59.6

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90035 Definition Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence…

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Maternally inherited diabetes and deafness

1-9 / 1 000 000
E13.8

Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by…

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Hereditary pancreatitis

1-9 / 1 000 000
K86.1

Hereditary pancreatitis causes multiple episodes of inflammation of the pancreas (pancreatitis), an important digestive organ. Symptoms usually begin in childhood and may last a few days or longer. Signs and symptoms may include stomach pain, nausea, or vomiting. People with hereditary pancreatitis develop chronic pancreatitis, a constantly inflamed pancreas. This leads to symptoms which may include…

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Barth syndrome

1-9 / 1 000 000
E71.1

Barth syndrome is a metabolic and neuromuscular disorder, occurring almost exclusively in males, that primarily affects the heart, immune system, muscles, and growth. It typically becomes apparent during infancy or early childhood, but the age of onset, associated symptoms and findings, and disease course varies considerably among affected individuals. The main characteristics of the condition include abnormalities of…

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Juvenile Huntington disease

1-9 / 1 000 000
G10

Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset…

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Inclusion body myositis

1-9 / 1 000 000
M60.8

Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. IBM develops in adulthood, usually after age 50. The symptoms and rate of progression vary from person to person. The most common symptoms include progressive weakness of the legs, arms, fingers, and…

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Spina bifida

1-5 / 10 000
Q05.0 Q05.1 Q05.2 Q05.3 Q05.4 Q05.5 Q05.6 Q05.7 Q05.8 Q05.9

Spina bifida is a type of neural tube defect in which the neural tube (the structure in an embryo that becomes the brain and spinal cord) does not completely close during development in the womb. This may result in part of the spinal cord sticking out through an opening in the spine, leading to permanent…

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Congenital hypothyroidism

1-5 / 10 000
E00.0 E00.1 E00.2 E00.9 E03.0 E03.1

Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In…

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Post-transplant lymphoproliferative disease

1-5 / 10 000
D47.9

Post-transplant lymphoproliferative disease (PTLD) is a complication of transplantation in which there is uncontrolled growth of lymphocytes.[1][2] It occurs in people whose immune systems have been intentionally suppressed due to having a solid organ transplant or hematopoietic stem cell transplant.[1] The severity of PTLD can range from causing a mild, noncancerous (benign) overgrowth of tissue, to…

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Hereditary spherocytosis

1-5 / 10 000
D58.0

Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen.[1] Other symptoms of hemolytic anemia may include feeling that your heart is pounding or racing (palpitations),…

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Dandy-Walker complex

1-9 / 100 000
Q03.1

Dandy-Walker complex is a group of disorders that affect the development of the brain. The changes in brain development are present from birth (congenital). Dandy-Walker complex affects the formation of the area of the brain known as the cerebellum, which is responsible for coordinating movement, and the fluid-filled spaces around it. People with Dandy-Walker complex…

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Wolfram syndrome

1-9 / 1 000 000
E34.8

Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D).[1] Other symptoms may include bladder and bowel dysfunction, problems with the parts of the inner ear and brain that…

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Acromegaly

1-9 / 100 000
E22.0

Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that; alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and…

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Duchenne muscular dystrophy

1-9 / 100 000
G71.0

Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk…

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Nephrogenic diabetes insipidus

1-9 / 1 000 000
N25.1

Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to produce a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH)…

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X-linked agammaglobulinemia

1-9 / 1 000 000
D80.0

X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis,…

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Enthesitis-related juvenile idiopathic arthritis

1-9 / 100 000
M08.8

Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in…

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Hereditary paraganglioma-pheochromocytoma

1-9 / 1 000 000
C74.1 C75.5 D35.0 D35.6

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 29072 Definition Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term). Epidemiology Hereditary PGL/PCCs…

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Argininosuccinic aciduria

1-9 / 100 000
E72.2

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few…

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Fragile XE syndrome

1-9 / 1 000 000
-

Fragile XE syndrome (FRAXE) is a genetic condition associated with mild to borderline intellectual disabilities with physical features differing from person to person. The characteristic features are learning difficulties, often a consequence of communication problems (speech delay, poor writing skills), hyperactivity, and a shortened attention span. Nearly all cases of FRAXE are caused by a specific type of mutation, called a trinucleotide…

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Pierre Robin sequence

1-9 / 100 000
Q87.0

Pierre Robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (cleft palate).[1][2] This combination of features can lead to difficulty breathing and problems with eating…

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Pseudoxanthoma elasticum

1-9 / 100 000
Q82.8

Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms,…

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Type 1 plasminogen deficiency

1-9 / 1 000 000
L90.5

Type 1 plasminogen deficiency is a genetic condition associated with inflammed growths on the mucous membranes, the moist tissues that line body openings such as the eye, mouth, nasopharynx, trachea, and female genital tract. The growths may be triggered by local injury and/or infection and often recur after removal. The growths are caused by the deposition…

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Localized scleroderma

1-9 / 100 000
L94.0

Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard.[1] Localized types of scleroderma are those limited to the skin and related tissues and, in some…

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Niemann-Pick disease type B

1-9 / 1 000 000
E75.2

Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain.[1][2] Signs and symptoms typically develop in the pre-teen years and may include enlarged liver and spleen (hepatosplenomegaly), short stature, problems with lung function including frequent lung infections, and…

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Coffin-Lowry syndrome

1-9 / 100 000
Q87.0

Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature, microcephaly, kyphoscoliosis, other skeletal abnormalities, stimulus-induced drop episodes, intellectual disability and delayed development. Mutations…

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Parathyroid carcinoma

1-9 / 1 000 000
C75.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 143 Definition Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related…

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Congenital dyserythropoietic anemia

1-9 / 1 000 000
D64.4

Congenital dyserythropoietic anemia is a hereditary disease that affects the production of red blood cells (erythropoiesis) and is characterized by anemia and problems in various organs. The signs and symptoms may include fatigue, weakness, pale skin, yellowing of the skin and eyes (jaundice), larger-than-normal liver and spleen (hepatosplenomegaly), and problems of the heart.[1] There are…

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Hypohidrotic ectodermal dysplasia

1-9 / 100 000
Q82.4

Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the…

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Neurofibromatosis type 2

1-9 / 100 000
Q85.0

Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Childhood symptoms include skin growths and eye findings. Almost all people with NF2 develop vestibular schwannomas affecting both ears by age 30. Other tumors of the central nervous system (the brain and spinal cord), skin and eye are also…

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Typical congenital nemaline myopathy

1-9 / 100 000
G71.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171436 Definition Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement. Epidemiology The annual incidence of NM has…

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Oculocutaneous albinism type 2

1-9 / 100 000
E70.3

Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with…

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Limb-girdle muscular dystrophy

1-9 / 100 000
G71.0

Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers.[1] Most…

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Friedreich ataxia

1.5-2.5 / 100,000
G11.1

Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart…

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Dravet syndrome

3-5/100,000
G40.4

Dravet syndrome is the most severe of a group of conditions known as SCN1Arelated seizure disorders. Symptoms include seizures which first occur in infancy that are often triggered by high temperatures (febrile seizures). In childhood, many types of seizures may occur and they may increase in frequency. Seizures may be difficult to treat. Other symptoms include loss…

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Ectodermal dysplasia

6-9 / 10 000
-

Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails;…

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Congenital adrenal hyperplasia

7-10 / 100,000
E25.0

Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these…

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Spinal muscular atrophy (SMA)

10/100,000
G12.9

Spinal muscular atrophy (SMA) is a group of genetic neuromuscular disorders that affect the nerve cells that control voluntary muscles (motor neurons). The loss of motor neurons causes progressive muscle weakness and loss of movement due to muscle wasting (atrophy). The severity of the symptoms, the age at which symptoms, begin, and genetic cause varies…

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Rett syndrome

10/100,000
F84.2

Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming…

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Focal segmental glomerulosclerosis

12-15/100,000
N04.1

Focal segmental glomerulosclerosis (FSGS) is a type of kidney disorder. It is characterized by scar tissue that forms in some of the glomeruli in the kidney.[1] FSGS may cause non-specific signs and symptoms, including protein in the urine, elevated levels of creatinine, and swelling.[2][3] In many cases the cause of FSGS can not be determined. Some…

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Lennox-Gastaut syndrome

15/100,000
G40.81

Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability.[1] This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no…

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Immune thrombocytopenic purpura

15-18 / 100,000
D69.3

Immune thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is…

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Autoimmune hemolytic anemia

17/100,000
D59.0 D59.1

Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia.[1][2][3][4] Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/or splenomegaly. AIHA can be primary (idiopathic) or result from…

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IgA nephropathy

18 / 100,000
N02.8

IgA nephropathy is a kidney disorder that occurs when IgA (immunoglobulin A), a protein that helps the body fight infections, settles in the kidneys. IgA nephropathy can occur at any age, even in childhood. After many years, deposits of IgA may cause the kidneys to leak blood and sometimes protein in the urine. In the early…

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Narcolepsy

50/100,000
G47.4

Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called “sleep attacks”) that can occur at any time, and may last from seconds or minutes. Other signs and symptoms may include cataplexy (a sudden loss of…

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