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- этимология
Что (кто) такое xanthomatosis generalisata ossium - определение
AUTOSOMAL RECESSIVE FORM OF XANTHOMATOSIS.
Xanthomatosis, cerebrotendinous; Cerebrotendinous cholesterosis; Xanthomatosis cerebrotendinous; Cerebrotendinous xanthomatosis; Cholestanolosis; Van Bogaert-Scherer-Epstein Syndrome; Cerebrotendinous Xanthomatosis; Van Bogaert–Scherer–Epstein syndrome; Cerebral cholesterosis; Van Bogaert-Scherer-Epstein syndrome
Cerebrotendineous xanthomatosis
Cerebrotendinous xanthomatosis, also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies.
Worth syndrome
HYPEROSTOSIS THAT HAS MATERIAL BASIS IN A MUTATION IN THE LRP5 GENE WHICH RESULTS IN INCREASED BONE DENSITY AND BONY STRUCTURES LOCATED IN PALATE
Hyperostosis Corticalis Generalisata; Benign form of Worth hyperostosis corticalis generalisata with torus platinus; Autosomal dominant osteosclerosis; Autosomal dominant endosteal hyperostosis; Worth disease; Hyperostosis corticalis generalisata
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate.
Normolipoproteinemic xanthomatosis
MEDICAL CONDITION
Normolipoproteinemic xanthomatosis is a cutaneous condition characterized by a xanthoma in the presence of normal cholesterol and lipoprotein levels.
Википедия
Cerebrotendineous xanthomatosis
Cerebrotendinous xanthomatosis, also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies.
