29 relations: Chorioretinitis, Chromosome 8, Coloboma, Dominance (genetics), Dysmorphic feature, Epileptic seizure, Gene, Hearing loss, Hemeralopia, Intellectual disability, Iris (anatomy), Israel, Locus (genetics), Micrognathism, Microphthalmia, Mirhosseini–Holmes–Walton syndrome, Mutation, Near-sightedness, Nystagmus, Obesity, Optic neuropathy, Palate, Palestinians, Philtrum, Pigment, Retina, Strabismus, Tulkarm, VPS13B.
Chorioretinitis
Chorioretinitis is an inflammation of the choroid (thin pigmented vascular coat of the eye) and retina of the eye.
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Chromosome 8
Chromosome 8 is one of the 23 pairs of chromosomes in humans.
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Coloboma
A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Dysmorphic feature
A dysmorphic feature is a difference of body structure.
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Epileptic seizure
An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Hearing loss
Hearing loss, also known as hearing impairment, is a partial or total inability to hear.
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Hemeralopia
Hemeralopia (from Greek ημέρα hemera, "day", and αλαός alaos, "blindness") is the inability to see clearly in bright light and is the exact opposite of nyctalopia (night blindness), the inability to see clearly in low light.
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Intellectual disability
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
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Iris (anatomy)
In humans and most mammals and birds, the iris (plural: irides or irises) is a thin, circular structure in the eye, responsible for controlling the diameter and size of the pupil and thus the amount of light reaching the retina.
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Israel
Israel, officially the State of Israel, is a country in the Middle East, on the southeastern shore of the Mediterranean Sea and the northern shore of the Red Sea.
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Locus (genetics)
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
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Micrognathism
Micrognathism, also called micrognathia, strawberry chin, hypognathia or hypogthathism, is a condition where the jaw is undersized.
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Microphthalmia
Microphthalmia (Greek: μικρός micros.
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Mirhosseini–Holmes–Walton syndrome
Mirhosseini–Holmes–Walton syndrome is a syndrome which involves retinal degeneration, cataract, microcephaly, and mental retardation.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Near-sightedness
Near-sightedness, also known as short-sightedness and myopia, is a condition of the eye where light focuses in front of, instead of on, the retina.
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Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in rare cases) eye movement, acquired in infancy or later in life, that may result in reduced or limited vision.
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Obesity
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have a negative effect on health.
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Optic neuropathy
Optic neuropathy is damage to the optic nerve from any cause.
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Palate
The palate is the roof of the mouth in humans and other mammals.
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Palestinians
The Palestinian people (الشعب الفلسطيني, ash-sha‘b al-Filasṭīnī), also referred to as Palestinians (الفلسطينيون, al-Filasṭīniyyūn, פָלַסְטִינִים) or Palestinian Arabs (العربي الفلسطيني, al-'arabi il-filastini), are an ethnonational group comprising the modern descendants of the peoples who have lived in Palestine over the centuries, including Jews and Samaritans, and who today are largely culturally and linguistically Arab.
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Philtrum
The philtrum (philtrum, φίλτρον philtron, lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to many mammals, extending in humans from the nasal septum to the tubercle of the upper lip.
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Pigment
A pigment is a material that changes the color of reflected or transmitted light as the result of wavelength-selective absorption.
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Retina
The retina is the innermost, light-sensitive "coat", or layer, of shell tissue of the eye of most vertebrates and some molluscs.
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Strabismus
Strabismus, also known as crossed eyes, is a condition in which the eyes do not properly align with each other when looking at an object.
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Tulkarm
Tulkarm or Tulkarem (طولكرم, Ṭūlkarm) is a Palestinian city in the West Bank, located in the Tulkarm Governorate.
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VPS13B
VPS13B is a giant protein associated with the Golgi apparatus.
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Redirects here:
Cohen Syndrome, Norio syndrome, Pepper syndrome.
References
[1] https://en.wikipedia.org/wiki/Cohen_syndrome