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Submitted by: Nicole Yin
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints..
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Submitted by: Vivi Li
exostosin glycosyltransferase 2
keywords : genes; 
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Submitted by: Rui Liu
Transmembrane protein 127 (TMEM 127): Mutations in the TMEM127 gene increase the risk of developing a noncancerous tumor associated with the nervous system called paraganglioma or pheochromocytoma (a type of paraganglioma).
keywords : genes; 
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Submitted by: Peter Tang
Titin
keywords : genes; 
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Submitted by: Lily Guo
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
keywords : genes; 
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Submitted by: Catherine Yang
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
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Submitted by: Nicole Yin
Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.
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Submitted by: Vivi Li
Ectodysplasin A receptor: The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor. 
keywords : genes; 
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Submitted by: Vivi Li
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A
keywords : genes; 
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Submitted by: Lily Guo
POU class 3 homeobox 4
keywords : genes; 
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