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- B54aadb88594344904c0abcbde15aaaa9 hasDbXref "https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome" @default.
- B54aadb88594344904c0abcbde15aaaa9 type Axiom @default.
- B54aadb88594344904c0abcbde15aaaa9 annotatedProperty IAO_0000115 @default.
- B54aadb88594344904c0abcbde15aaaa9 annotatedSource MONDO_0016854 @default.
- B54aadb88594344904c0abcbde15aaaa9 annotatedTarget "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." @default.