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Cranioosteoarthropathy
A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. [from SNOMEDCT_US]
Retinitis pigmentosa 22
A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1. [from MONDO]
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