Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd0f9e276061bef46b8c7b600eefb2f5a> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bd0f9e276061bef46b8c7b600eefb2f5a hasDbXref "https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome" @default.
- Bd0f9e276061bef46b8c7b600eefb2f5a type Axiom @default.
- Bd0f9e276061bef46b8c7b600eefb2f5a annotatedProperty IAO_0000115 @default.
- Bd0f9e276061bef46b8c7b600eefb2f5a annotatedSource MONDO_0016854 @default.
- Bd0f9e276061bef46b8c7b600eefb2f5a 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.