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skos:definition |
JABL: A syndrome of unknown etiology with variable expression characterized mainly by non-ossifying fibromata, extraskeletal congenital anomalies such as cafe-au-lait spots, mental retardation, hypogonadism or cryptorchidism, and ocular and cardiovascular malformations.
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skos:inScheme | |
skos-xl:prefLabel | |
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umls:relation |