Mindblown: a blog about philosophy.
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Ollier disease
Ollier disease (OD) is a disorder of bone and cartilage formation. Findings may be present at birth but generally are not obvious until 1-4 years of age.
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Olivopontocerebellar atrophy
Olivopontocerebellar atrophy (OPCA) is a rare progressive heterogeneous neurological condition characterized by neuronal loss in the inferior olives, ventral pons, and cerebellar cortex brain regions. Several sub-classifications of OPCA exist based on differences in inheritance patterns (familial and sporadic) and age of onset (infantile, juvenile, and adult onset), a variety that suggests multiple underlying etiologies…
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Oculocerebral syndrome with hypopigmentation
Oculocerebral syndrome with hypopigmentation is a rare disorder in which the skin and hair lack normal color or have characteristics of albinism. This syndrome also is referred to as Cross syndrome, Cross-McKusick-Breen syndrome, or Kramer syndrome. In addition, central nervous system (CNS) involvement specific to the eyes and oculocerebral areas is present. Vision problems associated…
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Norrie disease
Norrie disease is a syndrome of retinal malformation characterized by dysplasia of retina and associated with mental retardation and deafness.
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Nonverbal learning disability
Nonverbal learning disability (NVLD) is defined as a discrepancy between good or average verbal skills and poor nonverbal skills. More specifically, NVLD is characterized by difficulty with nonverbal skills such as social perception, visual-spatial organization and perception, problem solving, arithmetic, abstract thinking, and psychomotor integration. There is some research to suggest that NVLD is associated…
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Nezelof syndrome
Nezelof syndrome is one of many immunodeficiency disorders. Other names for Nezelof syndrome include Nezelof thymic aplasia, thymic dysplasia with normal immunoglobulins, combined immunodeficiency with immunoglobulins, pure alymphocytosis, Nezelof-type severe combined immunodeficiency, and immune defect due to the absence of the thymus. As with other immunodeficiency disorders, Nezelof syndrome is characterized by decreased ability of…
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Severe chronic neutropenia
Severe chronic neutropenia is a blood disorder. It is characterized by abnormally low levels of the white blood cells that play an integral role in fighting infection. These bacteria-fighting white cells are called neutrophils. Neutrophils are produced within the bone cavities; any disorder, drug, or injury that affects bone marrow can result in a failure…
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Cyclic neutropenia
Cyclic neutropenia (CN) is a congenital, inherited disorder of white blood cell production. Its most characteristic feature is regular, periodic decreases in the numbers of circulating neutrophils (neutropenia). Neutrophils are a type of white blood cells produced in bone marrow. They are major players in combating infections caused by invading bacteria, viruses, and fungi. A…
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Hereditary motor and sensory neuropathy type II
Hereditary motor and sensory neuropathy Type II (HMSN2) is a form of Charcot-Marie-Tooth disease (CMT2). It is characterized by axonal degeneration with normal or near normal nerve conduction velocities. It is inherited as an autosomal dominant trait.
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Hereditary motor and sensory neuropathy Type I neuropathy
Hereditary motor and sensory neuropathy Type I (HMSN1) is also known as Charcot-Marie-Tooth disease (CMT1). It is characterized by demyelination and markedly reduced nerve conduction velocities. It is typically inherited as an autosomal dominant trait but can also be inherited as an X-linked or an autosomal recessive inheritance. The disease is characterized by upper and…
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